Legal Blindness in Early Adulthood & Severe Early-Onset Retinitis Pigmentosa: Causes & Reasons

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Possible Causes for Legal Blindness in Early Adulthood & Severe Early-Onset Retinitis Pigmentosa

Bothnia Retinal Dystrophy

pigmentosa LCA5 Leber congenital amaurosis LRAT Leber congenital amaurosis, Retinal-dystrophy, early-onset severe, Retinitis pigmentosa, juvenile, Retinitis punctata albescens [genda.com.ar]

[…] onset with changes of retinitis punctata albescens, followed by macular degeneration and decreased visual acuity, leading to legal blindness by early adulthood. [newmedicalterms.com]

In young adults, retinitis punctata albescens was observed, followed by macular degeneration and a decrease in visual acuity that led to legal blindness in early adulthood [wwww.unboundmedicine.com]

Leber Congenital Amaurosis

retinitis pigmentosa Severe early childhood onset retinal dystrophy (SECORD) Achromatopsia Congenital stationary night blindness (CSNB) Intrauterine infection Autoimmune [eyerounds.org]

Reference work entry DOI: https://doi.org/ 10.1007/978-3-540-29676-8_3269 Synonyms Early onset retinitis pigmentosa; Early onset rod cone dystrophy; Early onset cone rod dystrophy [link.springer.com]

[…] blindness MANAGEMENT / COUNSELING POINTS RPE65 mutations are autosomal recessive Effects seem to be isolated to the eye May benefit from gene therapy Differential Diagnosis: Early-onset [eyerounds.org]

Bardet-Biedl Syndrome Type 16

[…] dystrophy, early-onset severe, 248200 ABCA4 Retinitis pigmentosa 19 601718 ABCA4 Stargardt disease 1 248200 ABCA4 {Macular degeneration, age-related, 2}, 153800 ABCC6 Arterial [qgenomics.com]

Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. [medlineplus.gov]

[…] dystrophy, early-onset severe, 613341 LRAT Retinitis pigmentosa, juvenile, 613341 LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 [qgenomics.com]

Usher Syndrome Type 1J

Type I is characterized by a severe to profound deafness at birth, delayed development in motor skills, vestibular problems, and early onset of vision loss due to retinitis [audiologyonline.com]

Legally blind in early to mid adulthood. [dbproject.mn.org]

Night blindness in infancy or early childhood. Can be legally blind by early adulthood. [nationaldb.org]

Usher Syndrome Type 3B

Legally blind in early to mid adulthood. [dbproject.mn.org]

Night blindness in infancy or early childhood. Can be legally blind by early adulthood. [nationaldb.org]

Bardet-Biedl Syndrome

In 12 patients, we identified biallelic pathogenic variants; they had retinitis pigmentosa with early onset of visual impairment. [bmcmedgenet.biomedcentral.com]

Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. [medlineplus.gov]

However, retinal dystrophy was less severe in patients with BBS1 than in those with BBS10 variants. [bmcmedgenet.biomedcentral.com]

Cone-Rod Dystrophy

Although disease severity in X-linked retinitis pigmentosa varies and it is different from the other forms of early onset retinitis pigmentosa and Leber congenital amaurosis [medscape.com]

Progressive CRD usually develops a little later, in late childhood or early adulthood. [naturaleyecare.com]

Early onset retinitis pigmentosa and Leber congenital amaurosis, once considered distinct entities by virtue of age of onset, at birth and within early childhood, respectively [medscape.com]

Usher Syndrome Type 1D

Retinitis punctata albescens Revesz syndrome Septo-optic dysplasia spectrum Severe early-childhood-onset retinal dystrophy Sorsby pseudoinflammatory fundus dystrophy Stargardt [se-atlas.de]

Legally blind in early to mid adulthood. [dbproject.mn.org]

Patients with autosomal dominant and autosomal recessive RP are usually diagnosed with RP during early adulthood. [retinafoundation.org]

Usher Syndrome

[…] and vision impairment due to retinitis pigmentosa. [liebertpub.com]

Legally blind in early to mid adulthood. [dbproject.mn.org]

[…] impairment due to retinitis pigmentosa. [pubfacts.com]

Bardet-Biedl Syndrome Type 11

In 12 patients, we identified biallelic pathogenic variants; they had retinitis pigmentosa with early onset of visual impairment. [bmcmedgenet.biomedcentral.com]

Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. [medlineplus.gov]

However, retinal dystrophy was less severe in patients with BBS1 than in those with BBS10 variants. [bmcmedgenet.biomedcentral.com]

Bardet-Biedl Syndrome Type 9

In 12 patients, we identified biallelic pathogenic variants; they had retinitis pigmentosa with early onset of visual impairment. [bmcmedgenet.biomedcentral.com]

It is not unusual for affected individuals to be legally blind by early adulthood. [ffb.ca]

Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. [medlineplus.gov]

X-Linked Cone Rod Dystrophy Type 3

Gene Associated Phenotypes ABCA4 Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatus ABCC6 Recessive [molecularvisionlab.com]

Patients with autosomal dominant and autosomal recessive RP are usually diagnosed with RP during early adulthood. [retinafoundation.org]

LCA is the most severe case of a classification of early onset retinal degeneration (Retinitis Pigmentosa). [crb1.org]

Familial Progressive Vestibulocochlear Dysfunction

The regression of RP can occur at different rates in different individuals, but many people with Usher syndrome are legally blind by early adulthood. [audiologyonline.com]

pigmentosa. [audiologyonline.com]

Retinitis Pigmentosa 11

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. [jamanetwork.com]

legal blindness in adulthood. [bioflorida.com]

[…] degeneration Abca4, Crx, Pde6b, Prph2, Rdh12, Rho, Rpe65, Rpgr retinal disease Abca4, Cdh23, Prph2 Retinal Dystrophy, Early Onset Severe Abca4 retinitis pigmentosa Abca4, [rgd.mcw.edu]

Bardet-Biedl Syndrome Type 2

[…] syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. [ghr.nlm.nih.gov]

Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. [medlineplus.gov]

By the time the child reaches adolescence or early adulthood, he may become legally blind. Another characteristic feature is obesity. [news-medical.net]

Usher Syndrome Type 2D

[…] and vision impairment due to retinitis pigmentosa. [ncbi.nlm.nih.gov]

Night blindness in infancy or early childhood. Can be legally blind by early adulthood. [nationaldb.org]

Usher Syndrome Type 3A

Night blindness usually begins sometime during puberty with blind spots appearing by early adulthood and by mid-adulthood the individual may be legally blind. [californiaearinstitute.com]

Blind spots appear by the late teens to early adulthood, and, by mid-adulthood, the person is usually legally blind. [medicinenet.com]

Bardet-Biedl Syndrome Type 5

The phenotype of Norwegian patients with BBS4 mutations, described by Riise and colleagues, 17 was noted to consist of severe retinitis pigmentosa with onset in early childhood [jamanetwork.com]

Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. [medlineplus.gov]

In 12 patients, we identified biallelic pathogenic variants; they had retinitis pigmentosa with early onset of visual impairment. [bmcmedgenet.biomedcentral.com]

Usher Syndrome Type 2A

Retinitis punctata albescens Revesz syndrome Septo-optic dysplasia spectrum Severe early-childhood-onset retinal dystrophy Sorsby pseudoinflammatory fundus dystrophy Stargardt [se-atlas.de]

The regression of RP can occur at different rates in different individuals, but many people with Usher syndrome are legally blind by early adulthood. [audiologyonline.com]

Night blindness also usually begins during adolescence. Blind spots appear by the late teens to early twenties. Legal blindness often occurs by midlife. [nei.nih.gov]

Usher Syndrome Type 1

Night blindness usually begins sometime during puberty with blind spots appearing by early adulthood and by mid-adulthood the individual may be legally blind. [californiaearinstitute.com]

Night blindness also usually begins during adolescence. Blind spots appear by the late teens to early twenties. Legal blindness often occurs by midlife. [nidcd.nih.gov]

Y-Linked Retinitis pigmentosa

Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatus AR 308 1231 ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [blueprintgenetics.com]

One of the earliest and most frequent symptoms of RP is night blindness. Typically, it is diagnosed in adolescence and early adulthood and is a progressive disorder. [globalgenes.org]

onset retinitis pigmentosa (RP) [14]. [wikigenes.org]

Retinitis pigmentosa 40

Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatus AR 306 1116 ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [blueprintgenetics.com]

Signs and symptoms often first appear in childhood, but severe visual problems often develop in early adulthood. [envisionus.com]

Most people with RP lose much of their sight by early adulthood. Then by age 40, they are often legally blind. [webmd.com]

Retinitis Pigmentosa

To report a heterozygous female presenting with an early-onset and severe form of X-linked retinitis pigmentosa (XLRP). [ncbi.nlm.nih.gov]

Signs and symptoms often first appear in childhood, but severe visual problems often develop in early adulthood. [envisionus.com]

pigmentosa. 54 61 6 Alvarez BV...Casey JR 17652713 2007 13 Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. 54 61 6 den [malacards.org]

Retinitis Pigmentosa 4

One of the earliest and most frequent symptoms of RP is night blindness. Typically, it is diagnosed in adolescence and early adulthood and is a progressive disorder. [globalgenes.org]

onset retinitis pigmentosa (RP) [14]. [wikigenes.org]

Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome

The regression of RP can occur at different rates in different individuals, but many people with Usher syndrome are legally blind by early adulthood. [audiologyonline.com]

pigmentosa. [audiologyonline.com]

Bardet-Biedl Syndrome Type 10

In 12 patients, we identified biallelic pathogenic variants; they had retinitis pigmentosa with early onset of visual impairment. [bmcmedgenet.biomedcentral.com]

The mean age at which these adolescents become legally blind is 15.5 years. By early adulthood, they are severely visually impaired. [counsyl.com]

Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. [ghr.nlm.nih.gov]

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

Retinal dystrophy, early-onset severe ( LRAT) Retinitis pigmentosa 33 ( SNRNP200) Retinitis pigmentosa 51 ( TTC8) Retinitis pigmentosa 54 ( C2orf71) Retinitis pigmentosa [de.praenatal-medizin.de]

Legal blindness usually results before the second decade of life. 36 – 42 Retinal dystrophies in BBS are mainly a rod–cone dystrophy or a cone–rod dystrophy, 34 usually classified [entokey.com]

[…] dystrophy, early-onset severe, 248200 (3) ABCA4 G:601691 +GR-Bell Retinitis pigmentosa 19, 601718 (3) ABCA4 G:601691 +GR-Bell Stargardt disease 1, 248200 (3) ABCA5 G:612503 [usegalaxy.org]

Retinitis

Signs and symptoms often first appear in childhood, but severe visual problems often develop in early adulthood. [envisionus.com]

Most people with RP lose much of their sight by early adulthood. Then by age 40, they are often legally blind. [webmd.com]

Retinopathy

Signs and symptoms often first appear in childhood, but severe visual problems often develop in early adulthood. [envisionus.com]

Most people with RP lose much of their sight by early adulthood. Then by age 40, they are often legally blind. [webmd.com]

Retinitis Pigmentosa 46

early-onset retinitis pigmentosa. 6 54 61 den Hollander AI...Hoyng CB 17620573 2007 14 A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant [malacards.org]

Signs and symptoms often first appear in childhood, but severe visual problems often develop in early adulthood. [envisionus.com]

Most people with RP lose much of their sight by early adulthood. Then by age 40, they are often legally blind. [webmd.com]