Retinitis Pigmentosa
In some patients with autosomal dominant retinitis pigmentosa, the disease is caused by one of a variety of mutations of the rhodopsin gene.[ncbi.nlm.nih.gov]
Genetic heterogeneity is present in autosomal dominant retinitis pigmentosa.[doi.org]
Our data identified two new autosomal dominant mutations in PRPF31, expanding the mutational spectrum of this gene.[ncbi.nlm.nih.gov]
Retinal Angioma
Patil Medical College & Hospital, Pune, Maharashtra India DOI : 10.4103/1858-540X.124849 Von Hippel Lindau (VHL) disease is a rare multisystem autosomal dominant disease characterized[sjopthal.net]
Genetics This is an autosomal dominant disorder caused by mutations in three genes.[disorders.eyes.arizona.edu]
Available from: Introduction Von Hippel Lindau (VHL) disease is a rare multisystem autosomal dominant disease characterized by retinal, cerebellum and spinal cord hemangioblastomas[sjopthal.net]
Retinal Pigmentary Dystrophy
Fundoscopy is unremarkable. Visual fields show a relative central scotoma. ERG is the most useful tool in assessing function.[patient.info]
dominant trait.[ncbi.nlm.nih.gov]
Keywords Retinitis Pigmentosa Retinal Degeneration Autosomal Dominant Disease Autosomal Dominant Inheritance Autosomal Recessive Disease These keywords were added by machine[link.springer.com]
Alport Syndrome
Keywords: Hereditary nephritis, Alport′s syndrome, Autosomal dominant.[sjkdt.org]
From his paternal family history, the disease was transmitted by autosomal dominant inheritance. The diagnosis of autosomal dominant Alport syndrome was made.[omicsonline.org]
Alport syndrome is more frequently inherited as an X-linked and less commonly as an autosomal dominant or autosomal recessive trait.[ncbi.nlm.nih.gov]
Retinitis
Nonsyndromic retinitis pigmentosa can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.[centogene.com]
Other cases of RP, where family history has been determined, fall into three main categories: autosomal recessive, autosomal dominant, and X-linked recessive.[genome.gov]
Nonsyndromic Retinitis Pigmentosa, Autosomal recessive retinitis pigmentosa, arRP, Nonsyndromic Retinitis Pigmentosa, Autosomal dominant retinitis pigmentosa, adRP Inheritance[centogene.com]
Best Disease
PURPOSE: To describe the clinical and molecular characteristics of two families with autosomal dominant Best disease and atypical electrooculography (EOG).[ncbi.nlm.nih.gov]
The autosomal dominant mode of inheritance seen in this condition implies that a positive family history is the main risk factor.[symptoma.com]
Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease).[ncbi.nlm.nih.gov]
Stargardt Macular Degeneration
On the basis of patterns of inheritance, STGD can be divided into autosomal recessive (STGD1), which is more common, and autosomal dominant forms (STGD3, or Stargardt-like[symptoma.com]
An autosomal dominant form of Stargardt disease also known as Stargardt-like dystrophy is caused by mutations in a gene encoding ELOVL4, an enzyme that catalyzes the elongation[ncbi.nlm.nih.gov]
It is notable that all mutations were detected in large autosomal dominant families.[spandidos-publications.com]
Retinoblastoma
Retinoblastoma is often inherited in an autosomal dominant fashion.[study.com]
The cancer may be hereditary; inheritance is mainly autosomal dominant but with incomplete penetrance (clinical symptoms are not always present in individuals who have the[msdmanuals.com]
In the other 40% of cases, there is a family history and the disease follows an autosomal dominant pattern of inheritance. So how does this work?[study.com]
Foveal Retinoschisis
Fundoscopy is unremarkable. Visual fields show a relative central scotoma. ERG is the most useful tool in assessing function.[patient.info]
Autosomal dominant inheritance of retinoschisis. Am J Ophthalmol 1982; 94: 338–343.[link.springer.com]
Autosomal Dominant Inheritance of Retinoschisis. American Journal of Ophthalmology. 1982 Sep 1;94(3):338–43.[eyewiki.aao.org]
Senior-Løken Syndrome
They are expressed in the same specific cilitated neurons that express gene homologs of the autosomal dominant polycystic kidney disease and Bardet-Biedl syndrome genes.[grantome.com]
; PAPRS Low match RENAL CYSTS AND DIABETES SYNDROME; RCAD The 'renal cysts and diabetes syndrome' is an autosomal dominant disorder comprising (1) nondiabetic renal disease[mendelian.co]
MCKD1 Autosomal dominant 1q21 MUC1, mucin1 Missense MCKD2 Autosomal dominant 16p12* UMOD, Uromodulin Missense *Co-localizes with familial juvenile hyperuricemic nephropathy[emedicine.medscape.com]