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List of works by Bernhard H Weber

(ATTT)n-tetranucleotide repeat polymorphism in the 5'-flanking region of the UGB gene

scientific article published on 01 November 1994

A 45,X male with a Yp/18 translocation

scientific article published on 01 October 1986

A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15

article published in 1985

A BRCA2 germ-line mutation in familial pancreatic carcinoma

scientific article published on 01 March 2001

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).

scientific article published on 14 February 2015

A Circulating MicroRNA Profile in a Laser-Induced Mouse Model of Choroidal Neovascularization

scientific article published on 13 April 2020

A Gene Map of the Best’s Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1 ⬇️

scientific article published on January 1, 1998

A Subgroup of Age-Related Macular Degeneration is Associated With Mono-Allelic Sequence Variants in theABCA4Gene ⬇️

scientific article published on April 30, 2012

A case of nonpenetrance in Best's disease

scientific article published on 01 September 1994

A circulating microrna profile is associated with late-stage neovascular age-related macular degeneration

scientific article

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

scientific article

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk

scientific article published on 18 November 2009

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A low-copy repeat located in subtelomeric regions of 14 different human chromosomal termini ⬇️

scientific article published on January 1, 1991

A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver.

scientific article published on 12 April 2018

A mega-analysis of expression quantitative trait loci in retinal tissue

scientific article published on 01 September 2020

A mouse model for Sorsby fundus dystrophy.

scientific article

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

scientific article

A novel antibody against human properdin inhibits the alternative complement system and specifically detects properdin from blood samples.

scientific article

A polymorphic DNA marker at the D8S131 locus ⬇️

scientific article published on April 11, 1991

A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region

scientific article published on 01 February 1995

A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy

scientific article

A sequence-ready high-resolution physical map of the best macular dystrophy gene region in 11q12-q13.

scientific article published on April 1997

A somatic truncating mutation in BRCA2 in a sporadic breast tumor.

scientific article published on October 1996

Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3.

scientific article

Age-related macular degeneration and coronary heart disease: evaluation of genetic and environmental associations

scientific article published on 25 October 2012

Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator

scientific article

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

scientific article

Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins.

scientific article

An Eye on Age-Related Macular Degeneration: The Role of MicroRNAs in Disease Pathology.

scientific article

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

scientific article

An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1) ⬇️

scientific article published on December 1, 1997

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

scientific article

An update on the genetics of age-related macular degeneration.

scientific article published on 7 February 2007

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases

scientific article published on August 1996

Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate.

scientific article

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1) ⬇️

scientific article published on August 1, 1998

Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma

scientific article published on 01 April 2008

Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

scientific article

Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity

scientific article published on 01 March 1994

Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.

scientific article

Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)

scientific article

Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n.

scientific article published in June 1990

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

scientific article

Chondroitin sulfate disaccharide stimulates microglia to adopt a novel regulatory phenotype.

scientific article published on 12 June 2008

Chromosomal localization of the carcinoembryonic antigen gene family and differential expression in various tumors ⬇️

scientific article published on May 1, 1988

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the <i>BEST1</i> Gene

scientific article published on 08 December 2020

Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family

scientific article published on 01 September 1997

Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene

scientific article published on 01 July 2006

Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins.

scientific article published in June 2001

Cloning and characterization of the murine Vmd2 RFP-TM gene family.

scientific article

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).

scientific article

Communicating BRCA1 and BRCA2 genetic test results

scientific article published on 01 June 2006

Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant

scientific article published on 19 September 2011

Correction: Systemic Complement Activation in Age-Related Macular Degeneration

Correction: Systemic Complement Activation in Age-Related Macular Degeneration.

scientific article

Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis.

scientific article published on 29 March 2012

Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene.

scientific article published on 15 May 2014

Differentiation of murine models of "negative ERG" by single and repetitive light stimuli.

scientific article published on 21 March 2016

Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.

scientific article

EFEMP1 is not associated with sporadic early onset drusen

scientific article (publication date: March 2001)

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.

scientific article published on 7 November 2007

Evaluation of DHPLC in the analysis of hemophilia A.

scientific article published in January 2001

Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration

scientific article

Evidence-based diagnostic approach to inherited retinal dystrophies 2009

scientific article published on 15 September 2009

Evolution and functional divergence of the anoctamin family of membrane proteins

scientific article

Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption ⬇️

scientific article published on June 15, 2013

First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.

scientific article published in December 1999

Frequency of BRCA1 mutation 5382insC in German breast cancer patients.

scientific article

Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1

scientific article published on 15 January 2016

Genetic risk models in age-related macular degeneration.

scientific article published on January 2014

Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development.

scientific article published in February 2007

Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies

scientific article

Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer

scientific journal article

Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)

scientific article published on 01 December 1995

Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin

scientific article published on 01 July 2006

Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.

scientific article

Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma

scientific article

High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11.

scientific article published in December 1994

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays

scientific article published on 26 November 2009

Homoeologic aberrations in human and chimpanzee Y chromosomes: inverted and satellited Y chromosomes.

scientific article published in January 1988

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

scientific article

Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes.

scientific article

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

scientific article published on 15 September 2013

Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin

scientific article published on 01 October 2004

Identifying differentially expressed genes in the mammalian retina and the retinal pigment epithelium by suppression subtractive hybridization.

scientific article

In vivo imaging reveals novel aspects of retinal disease progression in Rs1h−/Y mice but no therapeutic effect of carbonic anhydrase inhibition ⬇️

scientific article published on June 4, 2012

In-Depth Functional Diagnostics of Mouse Models by Single-Flash and Flicker Electroretinograms without Adapting Background Illumination.

scientific article published in January 2016

In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC).

scientific article

Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

scientific article

Induction of early growth response-1 mediates microglia activation in vitro but is dispensable in vivo.

scientific article

Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane

scientific article published on 15 November 2006

Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci.

scientific article published on 12 March 2018

Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region ⬇️

scientific article published on February 1, 1992

Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene.

scientific article

Isolation of a Drosophila T-box gene closely related to human TBX1 ⬇️

scientific article published on June 8, 1998

L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus.

scientific article published in May 2001

Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene

scientific article published on 01 December 2006

Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration

scientific article published on 10 October 2020

Linkage disequilibrium and modification of risk for Huntington disease ⬇️

scientific article published on March 1, 1991

Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis

scientific article published on 01 January 1992

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa.

scientific article

Localization of a Gene (CORD7) for a Dominant Cone-Rod Dystrophy to Chromosome 6q ⬇️

scientific article published on July 1, 1998

Localization of the human membrane-type 2 matrix metalloproteinase gene (MMP15) to 16q12.1 near DNA elements that are part of centromeric and non-centromeric heterochromatin of 11 human chromosomes.

scientific article published in April 1998

Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.

scientific article published on 5 February 2016

Mammalian sex-chromosome evolution: a conserved homoeologous segment on the X and Y chromosomes in primates

scientific article published on 01 January 1989

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

scientific article

Membrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retina

scientific article

Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations

scientific article published on 17 January 2017

MfERG waveform characteristics in the RS1h mouse model featuring a 'negative' ERG.

scientific article

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension.

scientific article published in December 2015

Modelling the genetic risk in age-related macular degeneration.

scientific article

Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy

scientific article published on 05 February 2008

Molecular evidence for non-penetrance in Best's disease.

scientific article

Molecular evolution and functional divergence of the bestrophin protein family

scientific article (publication date: 28 February 2008)

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study

scientific article published on December 2015

Morphology and functional characteristics in adult vitelliform macular dystrophy.

scientific article published in December 2004

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).

scientific article published on 18 April 2016

Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration

scientific article published on 17 March 2012

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

scientific article published on January 2017

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies

scientific article published on 26 February 2020

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

scientific article published on 3 February 2016

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

scientific article

Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)

scientific article published in August 2002

Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.

scientific article published on 23 June 2017

New insights into the clinical features, pathogenesis and molecular genetics of Huntington disease

scientific article published on October 1, 1992

Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3.

scientific article published in June 1992

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation

scientific article published on 04 July 2002

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

scientific article published on 26 November 2008

Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD)

scientific article published on 08 October 2020

Polymorphisms in the Janus kinase 2 (JAK)/signal transducer and activator of transcription (STAT) genes: putative association of the STAT gene region with familial breast cancer

scientific article published on 01 June 2007

Positional cloning of the gene associated with X-linked juvenile retinoschisis ⬇️

scientific article published on October 1, 1997

Primary failure of eruption (PFE)--clinical and molecular genetics analysis.

scientific article published in January 2010

Primary failure of eruption (PFE). Clinical and molecular genetics analysis

scientific article published on 3 September 2013

Progression of Late-Onset Stargardt Disease.

scientific article published on October 2016

Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.

scientific article published in July 2009

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

scientific article

Recent advances in the molecular genetics of hereditary retinal dystrophies with primary involvement of the macula

scientific article published on 01 January 1998

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.

scientific article published on 22 November 2016

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

scientific article published on 23 April 2018

Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients

scientific article published on 13 January 2014

Reticular Pseudodrusen in Sorsby Fundus Dystrophy

scientific article published on 12 June 2015

Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regions ⬇️

scientific article published on March 23, 2011

Retinoschisin is linked to retinal Na/K-ATPase signaling and localization

scientific article published on 14 June 2017

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.

scientific article

S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis

scientific article published on 28 May 2009

SCA2 trinucleotide expansion in German SCA patients

article published in 1997

SNPs in ultraconserved elements and familial breast cancer risk

scientific article published on 03 January 2008

Search for TSG101 germ-line mutations in BRCA1/BRCA2-negative breast/ovarian cancer families

scientific article published on 01 April 1998

Seed sequence polymorphism rs2168518 and allele-specific target gene regulation of hsa-miR-4513

scientific article published on 01 March 2022

Seven new loci associated with age-related macular degeneration

scientific article

Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model.

scientific article published on 20 September 2015

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.

scientific article published on April 2015

Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis.

scientific article published in October 2003

Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter

scientific article (publication date: June 1994)

Sorsby's fundus dystrophy: a genetically homogeneous condition ⬇️

scientific article published on May 1, 1998

Spontaneous immortalization of neural crest-derived corneal progenitor cells after chromosomal aberration.

scientific article published in August 2010

Structural recovery of the retina in a retinoschisin-deficient mouse after gene replacement therapy by solid lipid nanoparticles.

scientific article published on 03 March 2016

Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling.

scientific article

Systemic complement activation in age-related macular degeneration

scientific article

TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals

scientific article

Tapping Stem Cells to Target AMD: Challenges and Prospects

scientific article (publication date: 2015)

Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)

scientific article published on 01 November 2003

The German AugUR study: study protocol of a prospective study to investigate chronic diseases in the elderly.

scientific article published on 21 October 2015

The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis ⬇️

scientific article published on December 31, 2010

The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium

scientific article

The SERPING1 gene and age-related macular degeneration

scientific article published on September 2009

The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina.

scientific article published on 20 December 2016

The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy

scientific article published on 02 July 2019

The genetics of age-related macular degeneration (AMD)--Novel targets for designing treatment options?

scientific article published on 15 May 2015

The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain

scientific article (publication date: July 1992)

The natural history of X-linked retinoschisis

scientific article published on 01 April 1998

The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse

scientific article published on 01 January 2006

The role of the complement system in age-related macular degeneration

scientific article published on February 2014

The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa ⬇️

scientific article published on October 1, 1992

Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family

scientific article (publication date: April 2002)

Transcript map of a 900-kb genomic region in Xp22.1-p22.2: identification of 12 novel genes.

scientific article published in July 1998

Translocator protein (18 kDa) (TSPO) is expressed in reactive retinal microglia and modulates microglial inflammation and phagocytosis

scientific article published on 08 January 2014

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

scientific article published in March 2004

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

scientific article

Twenty-year follow-up of a familial case of PTH1R-associated primary failure of tooth eruption.

scientific article published in March 2017

VMD2 and its role in Best's disease and other retinopathies

scientific article published in February 2005

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

scientific article

Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.

scientific article published on December 2009

Views of ophthalmologists on the genetics of age-related macular degeneration: Results of a qualitative study

scientific article published in PLoS ONE

What Does Genetics Tell Us About Age-Related Macular Degeneration?

scientific article

X-Y crossing over in the chimpanzee.

scientific article published in November 1988

X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443

scientific article published on 01 January 1995

X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.

scientific article published in December 2014

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

scientific article published on 3 January 2012

Y chromosome mosaicism is associated with age-related macular degeneration

scientific article published on 29 August 2018

Y402H-Polymorphismus im Komplementfaktor H und altersabhängige Makuladegeneration (AMD)

scientific article published on 01 November 2005

[Familial juvenile macular dystrophy with congenital hypotrichosis capitis]

scientific article published on 01 April 1998

[Genetics of macular degeneration]

scientific article published on 01 January 1997

[Hereditary retinal dystrophies]

scientific article published on 12 January 2012

[Inherited retinal or optic nerve disorders – five steps to diagnosis]

scientific article published on 24 March 2015

[North Carolina macular dystrophy. Hereditary macular disease with good functional prognosis]

scientific article

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