Background: Oculocutaneous albinism (OCA) could be either non-syndromic or syndromic. There are significant challenges in clinically recognizing and differentiating Hermansky-Pudlak syndrome (HPS) from non-syndromic OCA.
Materials And Methods: In a prospective consecutive case series, 63 patients (less than 18 years old) with a molecular genetic diagnosis of albinism (except ), Ocular albinism (OA) and Hermansky-Pudlak syndrome seen over a 3-year period were evaluated and analyzed. Hair colour, iris colour was graded, compared and correlated with the degree of fundus pigmentation and foveal development.
Results: A total of 63 patients were evaluated. Forty-five patients had non-syndromic OCA (11 OCA1B, 24 OCA2, 9 OCA4, and 1 OCA6), 5 patients had OA and 13 patients had HPS. All 3 BLOC-related HPS categories were seen (1 with BLOC1, 7 with BLOC-2 and 5 with BLOC-3 related HPS). All patients with OA were hyperopic, had darker fundus pigmentation, but had poor foveal development. All HPS patients had lighter fundus pigmentation. The degree of fundus pigmentation correlated positively with the iris pigmentation and also with the foveal development only in OCA2.
Conclusions: Careful observation of the phenotype by comparison of the skin, hair, iris colour, with the degree of fundus pigmentation and foveal development may help clinically differentiate HPS from OCA patients of Chinese ethnicity even in the absence of any bleeding tendency.
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http://dx.doi.org/10.1080/13816810.2022.2135109 | DOI Listing |
Invest Ophthalmol Vis Sci
January 2025
Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Purpose: A projection-resolved optical coherence tomography angiography (PR-OCTA) algorithm with slab-specific strategy was applied in polypoidal choroidal vasculopathy (PCV) to differentiate between polyp and branching vascular network (BVN) and improve polyp detection by en face OCTA.
Methods: Twenty-nine participants diagnosed with PCV by indocyanine green angiography (ICGA) and 30 participants diagnosed with typical neovascular age-related macular degeneration (nAMD) were enrolled. Polyps were classified into three categories after using the slab-specific PR algorithm.
Prog Retin Eye Res
January 2025
Orbit Ophthalmo Learning, Rua Rio de São Pedro, no 256 Graça. Salvador BA, CEP 40.150-350, Brazil.
Blue light reflectance (BLR) imaging offers a non-invasive, cost-effective method for evaluating retinal structures by analyzing the reflectance and absorption characteristics of the inner retinal layers. By leveraging blue light's interaction with retinal tissues, BLR enhances visualization beyond the retinal nerve fiber layer, improving detection of structures such as the outer plexiform layer and macular pigment. Its diagnostic utility has been demonstrated in distinct retinal conditions, including hyperreflectance in early macular telangiectasia, hyporeflectance in non-perfused areas indicative of ischemia, identification of pseudodrusen patterns (notably the ribbon type), and detection of peripheral retinal tears and degenerative retinoschisis in eyes with reduced retinal pigment epithelial pigmentation.
View Article and Find Full Text PDFCureus
December 2024
Department of Ophthalmology, Xi'an No. 3 Hospital, the Affiliated Hospital of Northwest University, Xi'an, CHN.
Choroidal nevus is the most common intraocular tumor, and most cases are benign and have no symptoms. However, choroidal nevus carries a low risk for transformation into melanoma, which is a highly aggressive and deadly cancer. In this case report, we present a male patient with blurred vision in his left eye for six months.
View Article and Find Full Text PDFNat Commun
January 2025
NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & University College London Institute of Ophthalmology, London, UK.
Few metrics exist to describe phenotypic diversity within ophthalmic imaging datasets, with researchers often using ethnicity as a surrogate marker for biological variability. We derived a continuous, measured metric, the retinal pigment score (RPS), that quantifies the degree of pigmentation from a colour fundus photograph of the eye. RPS was validated using two large epidemiological studies with demographic and genetic data (UK Biobank and EPIC-Norfolk Study) and reproduced in a Tanzanian, an Australian, and a Chinese dataset.
View Article and Find Full Text PDFJ Ophthalmol
December 2024
Department of Ophthalmology, Ankara Bilkent City Hospital, Ankara, Turkey.
To evaluate the two-year fundus examination outcomes of term infants undergoing eye screening. Retrospective review of our data of term infants at a tertiary care center (Ankara Bilkent City Hospital) from October 2021 to October 2023. All screened infants underwent red reflex test and dilated posterior segment examination.
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