Disease: Optic atrophy and cataract- autosomal dominant
- <em>VCAN</em>-Related Vitreoretinopathy
- <em>VCAN</em>-Related Vitreoretinopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- <em>WFS1</em> Spectrum Disorder
- A familial syndrome of congenital cataract, mental impairment, and dentate gyrus atrophy
- A family with vitreo-tapeto-retino-choroidal degeneration with dominant transmission
- A missense mutation in the murine Opa3 gene models human Costeff syndrome
- A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network
- A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
- A study of certain traits accompanying some inherted neurological disorders
- An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs
- Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy
- Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms
- Clinical and molecular genetic analysis of hereditary optic neuropathies
- Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
- Clinical features of the congenital vitreoretinopathies
- Costeff optic atrophy syndrome: new clinical case and novel molecular findings
- Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum
- Diagnostic survey at Yamanashi School for Blind: importance of heredity
- Dominant optic atrophy
- Efficacy of GLP-1 Agonist Therapy in Autosomal Dominant WFS1-Related Disorder: A Case Report
- First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the <em>ZEB2</em> Gene Observed in Mowat-Wilson Syndrome
- First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome
- Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies
- Hereditary optic neuropathies share a common mitochondrial coupling defect
- Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified
- Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants
- OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
- OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia
- Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study
- Ophthalmological complications in the sclerosing bone dysplasias
- Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo <em>OPA3</em> mutation
- Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
- PAX6 aniridia and interhemispheric brain anomalies
- Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1
- The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome)
- The load of genetic and partially genetic disease in man. IV. Severe visual handicaps and profound childhood deafness in Hungarian school-age children