Dual inheritance patterns: a spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms DOI Creative Commons
Lara K. Holtes, Suzanne E. de Bruijn, Frans P.M. Cremers

и другие.

Progress in Retinal and Eye Research, Год журнала: 2024, Номер 104, С. 101308 - 101308

Опубликована: Ноя. 1, 2024

Inherited retinal diseases (IRDs) encompass a variety of disease phenotypes and are known to display both clinical genetic heterogeneity. A further complexity is that for several IRD-associated genes, pathogenic variants have been reported cause either autosomal dominant (AD) or recessive (AR) diseases. The possibility dual inheritance can create challenge variant interpretation as well the counselling patients. This review aims determine whether molecular mechanisms behind each gene established, not yet properly understood, if association questionable. Each discussed individually in detail due different protein structures functions, but there overlapping characteristics. For example, eight genes only limited number hotspot region implicated second pattern. Whereas CRX RP1 distinct spatial patterns AR AD based on type and/or location. with questionable inheritance, namely AIPL1, CRB1, RCBTB1 highlight importance carefully considering allele frequency data. Finally, crucial role relevant functional studies animal cell models play validating variant's biochemical effect emphasised.

Язык: Английский

Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies DOI Creative Commons
Amit V. Mishra, Sandra Vermeirsch, Siying Lin

и другие.

Investigative Ophthalmology & Visual Science, Год журнала: 2024, Номер 65(5), С. 9 - 9

Опубликована: Май 3, 2024

We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies.

Язык: Английский

Процитировано

3
Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy DOI Creative Commons
Alessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi

и другие.

Investigative Ophthalmology & Visual Science, Год журнала: 2025, Номер 66(4), С. 7 - 7

Опубликована: Апрель 2, 2025

Pathogenic variants in RP1L1 are associated with autosomal dominant occult macular dystrophy (OMD) and recessive retinitis pigmentosa (RP). In this study, we investigated the phenotypic genotypic landscape of RP1L1-associated retinopathy an ethnically heterogeneous cohort. This multicenter cohort study retrospectively collected following data: best-corrected visual acuity (BCVA), color fundus photograph (CFP), optical coherence tomography (OCT), short-wavelength autofluorescence (SW-AF), full-field electroretinography (ffERG). Patients were classified based on their clinical phenotype OMD or RP. Atypical cases analyzed separately reappraised according to genetic findings. included 20 patients (40 eyes) from 19 families: 12 (60%) OMD, 4 (20%) RP, atypical (3 "non-occult" dystrophy, 1 rod-cone vitelliform maculopathy). Autosomal was most common phenotype, one case identified. RP had latest onset, best acuity, highest refractive error. BCVA declined by ∼0.5 lines/year over a median follow-up 3.2 years. Mutations cause spectrum diseases, including dystrophies, occasionally presenting pseudovitelliform maculopathy.

Язык: Английский

Процитировано

0
Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan DOI Open Access

Yozo Miyake

International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(11), С. 5166 - 5166

Опубликована: Май 28, 2025

In the past, only Oguchi disease was reported as a hereditary retinal from Japan. Dr. Chuuta Oguch Professor of Nagoya University in During past 40 years, four new clinical entities disorders have been detected by Miyake group Nagoya, All show essentially normal fundi, and diagnosis made mainly analysis an electroretinogram (ERG). Gene mutations are three them. Bipolar cell (BP) dysfunction syndrome: Congenital stationary night blindness (CSNB) with negative ERG (a-wave is larger than b-wave) named Schubert–Bornschein type 1952 considered to be independent entity. 1986, classified ninety patients into two types (complete incomplete type). The complete CSNB (CSNB1) showed no rod function, but (CSNB2) remaining function both subjective dark adaptation ERG. order investigate pathogenesis, these were analyzed comparing monkey ERGs using different glutamate analogs retina. demonstrated that CSNB1 has functional defect ON BP, while CSNB2 defects OFF BP cone visual pathways. Evidence several genetic heterogeneities diseases, indicating entities. Another entity, showing total 1974 brother younger sister, severe photophobia, nystagmus, extremely low acuity, disappearance color vision (total blindness). This disorder congenital stational condition, functions severely deteriorated birth remained unchanged through life. termed “Total bipolar syndrome (CSNB3)”. relationship between unknown. These kinds diseases can provide information on how relates functions. Occult macular dystrophy (OMD): (OMD) discovered 1989. shows unusual, inherited characterized progressive decrease acuity due dysfunction, fundus fluorescein angiography normal. full-field do not any abnormality, focal (FERG) or multifocal abnormal method for diagnosis. Many pedigrees this suggest autosomal dominant heredity, mutation RP1L1. “occult dystrophy”. “Occult” means “hidden sight”. Recently, it called “Miyake disease”.

Язык: Английский

Процитировано

0
Dual inheritance patterns: a spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms DOI Creative Commons
Lara K. Holtes, Suzanne E. de Bruijn, Frans P.M. Cremers

и другие.

Progress in Retinal and Eye Research, Год журнала: 2024, Номер 104, С. 101308 - 101308

Опубликована: Ноя. 1, 2024

Inherited retinal diseases (IRDs) encompass a variety of disease phenotypes and are known to display both clinical genetic heterogeneity. A further complexity is that for several IRD-associated genes, pathogenic variants have been reported cause either autosomal dominant (AD) or recessive (AR) diseases. The possibility dual inheritance can create challenge variant interpretation as well the counselling patients. This review aims determine whether molecular mechanisms behind each gene established, not yet properly understood, if association questionable. Each discussed individually in detail due different protein structures functions, but there overlapping characteristics. For example, eight genes only limited number hotspot region implicated second pattern. Whereas CRX RP1 distinct spatial patterns AR AD based on type and/or location. with questionable inheritance, namely AIPL1, CRB1, RCBTB1 highlight importance carefully considering allele frequency data. Finally, crucial role relevant functional studies animal cell models play validating variant's biochemical effect emphasised.

Язык: Английский

Процитировано

2