Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2020.6085
Abstract: Importance Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous… read more here.
Keywords: dystrophy; cln5; variant 415t; macular dystrophy ... See more keywords
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2019.100486
Abstract: Purpose We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations… read more here.
Keywords: loss; case; juvenile macular; macular dystrophy ... See more keywords
Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2019.100521
Abstract: Purpose To highlight the striking similarities between the lesions of congenital toxoplasmosis (CT) and North Carolina Macular Dystrophy (NCMD) using multimodal imaging including spectral domain optical coherence tomography (SD-OCT). Observations We are comparing a case… read more here.
Keywords: carolina macular; toxoplasmosis; north carolina; macular dystrophy ... See more keywords
Bestrophin 1 and retinal disease
Sign Up to like & getrecommendations! Published in 2017 at "Progress in Retinal and Eye Research"
DOI: 10.1016/j.preteyeres.2017.01.006
Abstract: Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to as the "bestrophinopathies". These five associated diseases are: Best vitelliform macular dystrophy,… read more here.
Keywords: bestrophin retinal; best1; macular dystrophy; retinal disease ... See more keywords
A novel dominant CRX mutation causes adult-onset macular dystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1373831
Abstract: ABSTRACT Background: To present the ophthalmological findings of a mother and son initially diagnosed with benign concentric annular macular dystrophy (BCAMD) and later discovered to carry a novel nonsense mutation in the cone-rod homeobox (CRX)… read more here.
Keywords: onset macular; adult onset; dystrophy; crx ... See more keywords
Spinocerebellar ataxia type 7 with RP1L1-negative occult macular dystrophy as retinal manifestation
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1633548
Abstract: ABSTRACT Background: Spinocerebellar ataxia Type 7 (SCA7) is an autosomal dominant, progressive neurodegenerative disorder, primarily characterized by cerebellar ataxia. The disease is caused by the expansion of a CAG trinucleotide repeat within the ataxin-7 gene… read more here.
Keywords: ataxia type; spinocerebellar ataxia; occult macular; rp1l1 negative ... See more keywords
Occult Macular Dystrophy: a case report and major review
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2089361
Abstract: ABSTRACT Background Occult Macular Dystrophy (OMD), a rare autosomal dominant disorder caused by mutations in the retinitis pigmentosa 1-like protein 1 gene (RP1L1), is characterized by loss of central visual acuity in the absence of… read more here.
Keywords: report; macular dystrophy; occult macular; omd ... See more keywords
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2092758
Abstract: ABSTRACT Background MFSD8 mutations can cause type 7 neuronal ceroid lipofuscinosis, a systemic disorder that includes vision loss; however, such mutations can also cause isolated retinal dystrophy with vision loss without systemic signs or symptoms… read more here.
Keywords: dystrophy; causing non; macular dystrophy; adult onset ... See more keywords
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddw374
Abstract: Macular dystrophy leads to progressive loss of central vision and shows symptoms similar to age-related macular degeneration. Genetic screening of patients diagnosed with macular dystrophy disclosed a novel mutation in the GUCA1A gene, namely a… read more here.
Keywords: gcap1; ca2; macular dystrophy; dysfunction cgmp ... See more keywords
Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000002190
Abstract: To the Editor: Hypotrichosis with juvenile macular dystrophy (HJMD, OMIM: 601553) is a rare autosomal recessive disorder characterized by short and sparse hair, progressive macular degeneration, decreased visual acuity, and even blindness in early life.… read more here.
Keywords: juvenile macular; hypotrichosis juvenile; macular dystrophy; compound heterozygous ... See more keywords
NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.
Sign Up to like & getrecommendations! Published in 2018 at "Retina"
DOI: 10.1097/iae.0000000000002183
Abstract: PURPOSE To characterize novel BEST1 mutations and the phenotype-genotype correlations in vitelliform macular dystrophy in a Chinese population. METHODS Seventeen individuals affected by vitelliform macular dystrophy underwent detailed ophthalmic examinations, including a best-corrected visual acuity… read more here.
Keywords: macular dystrophy; vitelliform macular; novel best1; best1 mutations ... See more keywords