Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. It is the most
common form of inherited retinal dystrophy, characterized by progressive degradation of …

Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age
population. We performed a retrospective epidemiological study to determine the genetic …

Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone
photoreceptors. To determine the extent of progressive retinal changes in achromatopsia …

Variants within the Retinitis Pigmentosa GTPase regulator (RPGR) gene are the
predominant cause of X-Linked Retinitis Pigmentosa (XLRP), a common and severe form of …

X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to
legal blindness in males and a broad severity spectrum in carrier females. Pathogenic …

Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five,
are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a …

Retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy is a retinal dystrophy
inherited in a X-linked recessive manner that typically causes progressive visual loss …

In April 2022, the first iteration of the MANE transcripts data set was published, 1 which
provides a single default transcript per gene to facilitate clinical reporting. This publication …

Despite advances in sequencing technologies, a molecular diagnosis remains elusive in
many patients with Mendelian disease. Current short-read clinical sequencing approaches …