The retinas contained only scattered cones in the midperiphery; the maculas and far peripheral regions contained reduced numbers of rods and cones with short to absent outer segments. [iovs.arvojournals.org]

Fundus changes may vary from mild pigment granularity to a distinct atrophic lesion in the central macula. [preventiongenetics.com]

In macular degeneration (see Chap. 243 ), cones and rods degenerate in the macula but not elsewhere in the retina. [ommbid.mhmedical.com]

Results: : In families A and B, respectively 2 and 3 affected individuals showed a classic RP phenotype with night blindness followed by concentric loss of visual field. [iovs.arvojournals.org]

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]

blindness, autosomal dominant 3; Night blindness, congenital stationary, type 1g GNAT2 Achromatopsia 4 GNPTG Mucolipidosis III gamma GPR143 Ocular albinism, type I; Nystagmus 6, congenital, X-linked GPR179 Congenital stationary night blindness, type [asperbio.com]

Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. [uniprot.org]

Pigment Epithelial Cell Differentiation and Cell Marker 559 About the Editors 568 Urheberrecht Häufige Begriffe und Wortgruppen Bibliografische Informationen [books.google.de]

Pigment Epithelial Cell Differentiation and Cell Marker 559 About the Editors 568 حقوق النشر معلومات المراجع [books.google.com]

pigment epithelium, or (c) a peculiar sensitivity of the photoreceptors or the retinal pigment epithelium to a generalized metabolic defect. [ommbid.mhmedical.com]

Name Retinitis Pigmentosa 37 Synonyms - Classification eye, genetic Phenotypes Autosomal dominant inheritance ; Autosomal recessive inheritance ; Cataract ; Cystoid macular degeneration ; Nyctalopia ; Photophobia ; Pigmentary retinopathy ; Red-green dyschromatopsia [mousephenotype.org]

The initial symptoms were photophobia and subsequent visual loss to counting fingers. Ophthalmoscopic features included profound macular atrophy. OCT and AF showed macular photoreceptor degeneration. [iovs.arvojournals.org]

The most common symptoms are photophobia and epiphora in bright light, decreased visual acuity, and dyschromatopsia. Fundus changes may vary from mild pigment granularity to a distinct atrophic lesion in the central macula. [preventiongenetics.com]

Red contact lenses for alleviation of photophobia in patients with cone disorders, Am. J. Ophthalmol. 2004;137:774-75 30) Wolfensberger TJ. The role of carbonic anhydrase inhibitors in the management of macular edema. [malattierare.regione.veneto.it]

[…] inheritance ; Cataract ; Cystoid macular degeneration ; Nyctalopia ; Photophobia ; Pigmentary retinopathy ; Red-green dyschromatopsia ; Rod-cone dystrophy ; Tritanomaly ; Undetectable light- and dark-adapted electroretinogram Associated Genes NR2E3 (Withdrawn [mousephenotype.org]

impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormality of upper limb bone 0 [clinvarminer.genetics.utah.edu]

impairment (score greater than 24 measured with Mini-Mental State Examination [MMSE]). [rehab.research.va.gov]

Conclusions: : Mutations in the C8orf37 gene give rise to an early-onset or adolescent-onset autosomal recessive cone-rod dystrophy or autosomal recessive retinitis pigmentosa phenotype with early severe macular involvement. [iovs.arvojournals.org]