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Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S. Smirnov VM, et al. Doc Ophthalmol. 2018 Apr;136(2):135-143. doi: 10.1007/s10633-018-9629-y. Epub 2018 Mar 10. Doc Ophthalmol. 2018. PMID: 29525873
It is a rare retinal dysfunction that can be classified into the incomplete form of congenital stationary night blindness. Absent foveal reflex and overall foveal thinning were previously reported, but in most cases the fundus appearance was described as near …
It is a rare retinal dysfunction that can be classified into the incomplete form of congenital stationary night blindness. Absent …
Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.
Mao X, Chen M, Yu Y, Liu Q, Yuan S, Fan W. Mao X, et al. BMC Ophthalmol. 2021 Mar 30;21(1):156. doi: 10.1186/s12886-021-01905-7. BMC Ophthalmol. 2021. PMID: 33785018 Free PMC article.
CASE PRESENTATION: We reported a large Chinese family in which all affected individuals are afflicted with poor visual acuity and foveal hypoplasia without signs of nystagmus. Fundus examination of patients showed an absent foveal reflex and mild hypopigmenta …
CASE PRESENTATION: We reported a large Chinese family in which all affected individuals are afflicted with poor visual acuity and foveal hyp …
Stargardt's disease. Family studies.
Mäntyjärvi M, Tuppurainen K. Mäntyjärvi M, et al. Doc Ophthalmol. 1992;79(1):79-89. doi: 10.1007/BF00160134. Doc Ophthalmol. 1992. PMID: 1568424
The ages of the seven patients with Stargardt's disease varied from 13 to 50 years, visual acuities from 0.05 to 1.0, and refraction from -8.5 to +2.25 D. In fundus, absent foveal reflex, atrophic macular spots and yellow perimacular flecks could be observ …
The ages of the seven patients with Stargardt's disease varied from 13 to 50 years, visual acuities from 0.05 to 1.0, and refraction from -8 …