Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Apr;41(2):198-200.
doi: 10.1080/13816810.2020.1737949. Epub 2020 Mar 16.

Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis

Ruben Jauregui  1   2   3 , Ahra Cho  1   2   4 , Christine L Xu  1   2 , Akemi J Tanaka  5 , Janet R Sparrow  1   2   5 , Stephen H Tsang  1   2   5
Affiliations
Case Reports

Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis

Ruben Jauregui et al. Ophthalmic Genet. 2020 Apr.
No abstract available

PubMed Disclaimer

Figures

Figure 1.
Figure 1.. Pedigree of the presented patients.
A 34-year old man (Patient 1, IV-2) visited our clinic with his 3-year old daughter (Patient 2, V-3). Clinical presentation of both patients was suggestive of a diagnosis of Leber Congenital Amaurosis caused by the gene RDH12. Family history was significant for multiple consanguineous marriages.
Figure 2.
Figure 2.. Clinical examination of the presented patients.
Color photography of the posterior pole of Patient 1 (A and B) revealed dense and widespread intraretinal pigment migration, a severely atrophic and demarcated macula with pigmentation and yellowing, optic disc pallor, attenuation of the retinal vessels, and generalized retinal atrophy (A). On short-wave fundus autofluorescence (SW-AF) images, generalized hypoautofluorescence was observed throughout the posterior pole, corresponding to atrophic retinal pigment epithelium (B). In Patient 2 (C and D) color photography revealed a severely atrophic and demarcated macula, along with mottling of the retinal pigment epithelium (RPE) throughout the posterior pole, optic disc pallor, and attenuation of the retinal vessels. Generalized retinal atrophy with preservation of the peripapillary area was also appreciated (C). SW-AF images also revealed a generalized loss of autofluorescence. The atrophic macula appeared as an area of dense hypoautofluorescence, with peripapillary sparing of the RPE evident as relative higher levels of autofluorescence surrounding the optic disc as compared to the rest of the fundus with generalized hypoautofluorescence (D).
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Kumaran N, Moore AT, Weleber RG, Michaelides M. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol. 2017;101(9):1147–54. - PMC - PubMed
    1. Sheck L, Davies WIL, Moradi P, Robson AG, Kumaran N, Liasis AC, et al. Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. Ophthalmology. 2018;125(6):894–903. - PMC - PubMed
    1. Jauregui R, Cho GY, Takahashi VKL, Takiuti JT, Bassuk AG, Mahajan VB, et al. Caring for Hereditary Childhood Retinal Blindness. Asia Pac J Ophthalmol (Phila). 2018. - PubMed
    1. den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008;27(4):391–419. - PubMed
    1. Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, et al. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function. Invest Ophthalmol Vis Sci. 2018;59(12):5225–36. - PubMed

Substances

LinkOut - more resources