A novel stop-gain < em > NF1 < /em > variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas
CONCLUSIONS: A patient with NF1 without OPGs developed bilateral optic atrophy and carried a novel de novo stop-gain variant of NF1. Although the relationship between NF1 variants and bilateral optic atrophy remains unclear, further investigations are required.PMID:37599594 | DOI:10.1080/13816810.2023.2245464 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 21, 2023 Category: Opthalmology Authors: Naoko Fukunaga Takaaki Hayashi Yuki Yamada Kei Mizobuchi Arihito Ohta Tadashi Nakano Source Type: research
Expanding the phenotypic and genotypic spectrum of patients with < em > HGSNAT < /em > -related retinopathy
CONCLUSIONS: HGSNAT has high phenotypic heterogeneity. Data from our cohort showed that all patients who had at least one variant of c.1843 G>A (p.Ala615Thr) presented with the onset of ocular symptoms after the fourth decade of life. The two patients with onset of ocular symptoms before the fourth decade did not carry this variant. This may suggest that c.1843 G>A variant is associated with a later onset of retinopathy.PMID:37592806 | DOI:10.1080/13816810.2023.2245035 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 18, 2023 Category: Opthalmology Authors: Mariana Matioli da Palma Molly Marra Austin D Igelman Cristy A Ku Amanda Burr Katherine Andersen Lesley A Everett Fernanda B O Porto Juliana Maria Ferraz Sallum Paul Yang Mark E Pennesi Source Type: research
Choroideremia presenting as vision loss secondary to choroidal neovascularization
CONCLUSIONS AND IMPORTANCE: Choroidal neovascularization is a rare cause of central vision loss in patients with choroideremia. In this report, we demonstrate a good functional and anatomic response to intravitreal bevacizumab in a 14-year-old patient with undiagnosed choroideremia who presented with CNV-induced central vision loss.PMID:37575054 | DOI:10.1080/13816810.2023.2245117 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 14, 2023 Category: Opthalmology Authors: Landon J Rohowetz Anne L Kunkler Jesse D Sengillo Thomas A Lazzarini Byron L Lam Audina M Berrocal Source Type: research
A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review
CONCLUSION: Our patient had a later onset form of Pierson syndrome or "FSGS type 5, with or without ocular abnormalities," consistent with his "milder" LAMB2 missense variant. The resemblance of the ocular features in Pierson syndrome and X-linked Alport syndrome suggests that mutations in LAMB2 and COL4A5 have similar effects on basement membranes and the pathogenesis of ocular damage.PMID:37537573 | DOI:10.1080/13816810.2023.2240881 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 3, 2023 Category: Opthalmology Authors: Kieran Gooley Peter Williams Heather Mack Victor Zhu David Langsford Tim Pianta David Barit Khalid Mahmood Judy Savige Source Type: research
