Affiliated tissues include retina, bone and eye, and related phenotypes are rod-cone dystrophy and optic disc pallor UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 14: A severe dystrophy of the retina, typically becoming evident in the first years [malacards.org]

Optic discs are best described clinically by the separate characteristics of cupping and pallor. [healio.com]

Fundus picture of both the siblings revealed presence of mild disc pallor, arteriolar attenuation and peripheral RPE mottling. Phenotype of the MERTK mutation positive arRP family. [journals.plos.org]

In the other four individuals retinal vessel attenuation was noticed and “waxy” optic nerve pallor was seen only in the eldest affected brother. [bjo.bmj.com]

Herodotus, the fifth century BC Greek historian, comments on the specialization of the physicians: “Each physician treats just one disease. [books.google.ro]

*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]

This book is a valuable resource for experimental geneticists, physicians, and research workers. [books.google.it]

It should not be confused with Leber Hereditary Optic Neuropathy described by the same physician in 1871. [imoe.it]

Infertility in mice with overexpression of RPGR has been reported recently [ 33 ]. [molvis.org]

PMID: 24830548 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

Munich MARCELLA RIETSCHEL 1898 Department of Psychiatry 1899 SOPHIE NICOLE Germany 1901 ALFRIED KOHLSCHÜTTER 1918 GIORA Z FEUERSTEIN Department of Dermatology Venerology and Allergy University Hospital SchleswigHolstein 1925 Division of Nephrology and Hypertension [books.google.com]

Strube OUP USA, 27.09.2012 - 1386 Seiten For over the past ten years Pediatric Ophthalmology and Strabismus has become the leading textbook in the specialty of pediatric ophthalmology and strabismus. [books.google.de]

Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus. [jamanetwork.com]

Other symptoms may include crossed eyes (strabismus), unusual sensitivity to light (photophobia); abnormal protrusion of the anterior, hearing loss, mental retardation, delays in the attainment of skills that need coordination of mental and psychomotor [altiusdirectory.com]

Sluggish pupillary responses, roving eye movement, photophobia, high hyperopia, nystagmus, convergent strabismus, or keratoconus may occur depending on the genetic cause. [orpha.net]

In a recent study published in the current issue of the Journal of AAPOS, the Official Publication of the American Association of Pediatric Ophthalmology and Strabismus, researchers from the University of Iowa Hospitals and Clinics, Iowa City, and The [sciencedaily.com]

Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. [malacards.org]

Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus. Visual acuity is rarely better than 20/400. [ncbi.nlm.nih.gov]

He also suffered from nystagmus, the oculo-digit sign and an absent electroretinogram. [cags.org.ae]

Subtle loss of pigmentation was present in the retinal periphery Case 2 The younger sister presented with nystagmus at 4 months of age. Examination revealed swirling, searching nystagmus. [surgicalneurologyint.com]