This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

*Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians. [medscape.com]

[…] the University of Iowa Eye Clinic, 11200 Pomerantz Family Pavilion, near Elevator L on Level 1 Mailing address Institute for Vision Research Inherited Eye Disease Service University of Iowa Hospitals & Clinics 200 Hawkins Drive Iowa City, IA 52242 Our physicians [medicine.uiowa.edu]

Our physicians can use genetic testing to help diagnose several conditions, including the following: Achromatopsia Albinism Best disease Choroideremia Cone rod dystrophy Congenital stationary night blindness Corneal dystrophy Doyne honeycomb dystrophy [columbiaeye.org]

Onset of symptoms is usually between 5 and 10 years of age, when parents or physicians may notice a child has begun to develop vision problems or seizures. … Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorders) March 12, 2018 by Peter Ciszewski [checkrare.com]

Contains thorough content updates in every area of retina, including advanced imaging technologies, gene therapy, inflammation and immune responses, white dot syndromes, epigenetic mechanisms, transplantation frontiers to improve retinal function, macular [books.google.com]

Neonatal onset multisystem inflammatory disease (NOMID) is a rare disorder that causes inflammation and tissue damage primarily affecting the nervous system, skin, and joints. [checkrare.com]

Another major concern is the possibility of inducing an immune response to the virus that causes ocular inflammation and impacts the retina and vision. [consultqd.clevelandclinic.org]

X-linked retinitis pigmentosa heterozygote Index to Diseases and Injuries References found for the code H35.52 in the Index to Diseases and Injuries: - Dystrophy, dystrophia - retinal (hereditary) - H35.50 - pigmentary - H35.52 - Retinitis - See Also: Inflammation [icdlist.com]

This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. [books.google.com]

Microscopically, the macular retinal pigment epithelium was absent focally and had pigmentary changes elsewhere. Cones and rods were absent from the perifovea and reduced with shortened outer segments elsewhere in the macula. [ncbi.nlm.nih.gov]

pigment epithelium (Pinckers and Timmerman 1981; Pinckers and Deutman 1987; Jacobson et al. 1989). [yumpu.com]

The fluorescein angiography and optical coherence tomography showed retinal pigment epithelial atrophy in the macula. The fundus auto-fluorescence image showed hypo-reflectivity. His visual field showed a paracentral/central scotoma. [retinareference.com]

CONCLUSION: CACNA1F mutations cause the retinal disorder, incomplete congenital stationary night blindness (CSNB2), although mutations have also been detected in patients with divergent diagnoses. [ncbi.nlm.nih.gov]

Conclusions: Mutations in CACNA1F are known to cause the incomplete form of X–linked congenital stationary night blindness (CSNB2), including an Åland Island eye disease–like phenotype, and retinal and optic disc atrophy. [iovs.arvojournals.org]

It typically causes an early-onset night blindness and loss of peripheral vision, often causing the patients to become legally blind by the age of 30–40 years. [yumpu.com]

In young patients with the symptom of night blindness, it is important to differentiate retinitis pigmentosa from stationary night blindness. [ommbid.mhmedical.com]

blindness, congenital stationary GNAT2 Achromatopsia GPR98 recessive Usher syndrome GPR125 recessive retinitis pigmentosa GPR179 Night blindness, congenital stationary GRK1 Oguchi disease GRM6 Night blindness, congenital stationary GRN Neuronal Ceroid [molecularvisionlab.com]