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The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D, Arno G, Corton M, Moosajee M. Lima Cunha D, et al. Genes (Basel). 2019 Dec 17;10(12):1050. doi: 10.3390/genes10121050. Genes (Basel). 2019. PMID: 31861090 Free PMC article. Review.
There are more than 500 different mutations described to affect PAX6 and its regulatory regions, the majority of which lead to PAX6 haploinsufficiency, causing several ocular and systemic abnormalities. Aniridia is an autosomal dominant disorder that is marked by the compl …
There are more than 500 different mutations described to affect PAX6 and its regulatory regions, the majority of which lead to PAX6 haploins …
Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
Daruich A, Robert MP, Leroy C, DE Vergnes N, Beugnet C, Malan V, Valleix S, Bremond-Gignac D. Daruich A, et al. Am J Ophthalmol. 2022 May;237:122-129. doi: 10.1016/j.ajo.2021.12.007. Epub 2021 Dec 20. Am J Ophthalmol. 2022. PMID: 34942114 Free article.
Spectral-domain optical coherence tomography images were assessed to classify foveal hypoplasia as grade 1 to 4 and to determine mean thicknesses for retinal layers. ...PAX6 deletions, PAX6 variants subjected to nonsense-mediated decay and C-terminal extensio …
Spectral-domain optical coherence tomography images were assessed to classify foveal hypoplasia as grade 1 to 4 and to …
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L, Kjer B, Lei U, Duno M, Grønskov K. Kessel L, et al. Ophthalmic Genet. 2021 Jun;42(3):230-238. doi: 10.1080/13816810.2021.1881979. Epub 2021 Feb 22. Ophthalmic Genet. 2021. PMID: 33612058
MATERIALS AND METHODS: Genotype-phenotype associations in patients with a clinical diagnosis of albinism were studied based on imaging of hair and ocular features (nystagmus, iris color and translucency, fundus pigmentation and foveal development) and self-evaluated skin t …
MATERIALS AND METHODS: Genotype-phenotype associations in patients with a clinical diagnosis of albinism were studied based on imaging of ha …
Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.
Yousaf S, Sethna S, Chaudhary MA, Shaikh RS, Riazuddin S, Ahmed ZM. Yousaf S, et al. Pigment Cell Melanoma Res. 2020 Jul;33(4):556-565. doi: 10.1111/pcmr.12879. Epub 2020 Apr 27. Pigment Cell Melanoma Res. 2020. PMID: 32274888 Free PMC article.
In this study, by utilizing a exome sequencing (ES) approach, we identified two new variants [p. (Gly110Arg) and p. (IIe189Ilefs*1)] of SLC24A5 cosegregating with the OCA phenotype, including nystagmus, strabismus, foveal hypoplasia, albinotic fundus, and vis …
In this study, by utilizing a exome sequencing (ES) approach, we identified two new variants [p. (Gly110Arg) and p. (IIe189Ilefs*1)] …
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/betathal genotype in an individual from the Democratic Republic of Congo.
Aquaron R, Lasseaux E, Kelekele J, Bonello-Palot N, Badens C, Arveiler B, Tshilolo L. Aquaron R, et al. Eur J Med Genet. 2022 Oct;65(10):104594. doi: 10.1016/j.ejmg.2022.104594. Epub 2022 Aug 12. Eur J Med Genet. 2022. PMID: 35964929
She presented with creamy white skin and numerous pigmented patches called dendritic freckles, nystagmus, foveal hypoplasia grade 2, photophobia and very poor visual acuity. ...Hbbeta sequencing identified variants c.20A > T giving rise to HbS and c.315 + 1 …
She presented with creamy white skin and numerous pigmented patches called dendritic freckles, nystagmus, foveal hypoplasia gr …
A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.
Yu Y, Jia H, Ma Q, Zhang R, Jiao Y. Yu Y, et al. BMC Ophthalmol. 2023 Aug 8;23(1):349. doi: 10.1186/s12886-023-03054-5. BMC Ophthalmol. 2023. PMID: 37553561 Free PMC article.
BACKGROUND: According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes. ...
BACKGROUND: According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various ante …
Outcome of universal newborn eye screening with wide-field digital retinal image acquisition system: a pilot study.
Goyal P, Padhi TR, Das T, Pradhan L, Sutar S, Butola S, Behera UC, Jain L, Jalali S. Goyal P, et al. Eye (Lond). 2018 Jan;32(1):67-73. doi: 10.1038/eye.2017.129. Epub 2017 Jul 24. Eye (Lond). 2018. PMID: 28737759 Free PMC article.
Retinal hemorrhage in 153 babies (88.9% of all abnormal findings) was the most common abnormality; it was bilateral in 118 (77.12%) babies and 4 babies had foveal hemorrhage. Other abnormalities included vitreous hemorrhage (n=1), congenital glaucoma (n=2), u …
Retinal hemorrhage in 153 babies (88.9% of all abnormal findings) was the most common abnormality; it was bilateral in 118 (77.12%) babies a …
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW. Aleman TS, et al. Ophthalmic Genet. 2021 Jun;42(3):252-265. doi: 10.1080/13816810.2021.1888132. Epub 2021 Mar 17. Ophthalmic Genet. 2021. PMID: 33729075 Free PMC article.
Purpose: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 geneMethods: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations over three years. ...Predomin …
Purpose: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 geneM …
The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype-Genotype Discordance.
Pedersen HR, Neitz M, Gilson SJ, Landsend ECS, Utheim ØA, Utheim TP, Baraas RC. Pedersen HR, et al. Ophthalmol Retina. 2019 Jun;3(6):523-534. doi: 10.1016/j.oret.2019.01.020. Epub 2019 Feb 5. Ophthalmol Retina. 2019. PMID: 31174676 Free PMC article.
Adaptive optics scanning light ophthalmoscopy images were acquired from 5 family members with aniridia. Foveal CD varied between 19 899 and 55 128 cones/mm(2) with overlap between the foveal hypoplasia grades. ...This, together with the structural and functio …
Adaptive optics scanning light ophthalmoscopy images were acquired from 5 family members with aniridia. Foveal CD varied between 19 8 …
A phenotype-genotype correlation study of X-linked retinoschisis.
Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE. Vincent A, et al. Ophthalmology. 2013 Jul;120(7):1454-64. doi: 10.1016/j.ophtha.2012.12.008. Epub 2013 Feb 28. Ophthalmology. 2013. PMID: 23453514
DESIGN: Retrospective, comparative study. PARTICIPANTS: Fifty-seven patients (aged 1-67 years) with molecularly confirmed XLRS were clinically ascertained. ...Nonsense, splice-site, or frame-shifting mutations in RS1 consistently caused electronegative bright-flash ERG, de …
DESIGN: Retrospective, comparative study. PARTICIPANTS: Fifty-seven patients (aged 1-67 years) with molecularly confirmed XLRS were c …
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