Unilateral retinitis pigmentosa in children

Mercado, Carmel L.; Pham, Brandon; Beres, Shannon; Marmor, Michael F.; Lambert, Scott R.

doi:10.1016/j.jaapos.2018.08.003

Cited by 3 publications

(5 citation statements)

References 11 publications

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“…To the best of our knowledge, neither RPGR or AGBL5 mutations have been implicated previously in URP (Table 3) [25]. In this report, one of our patients (patient 2) showed an abnormal hyperautofluorescent ring, which is one of the structural changes often seen in RP associated with ciliopathy.…”

Section: Discussionmentioning

confidence: 45%

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Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

Milibari

Magliyah²,

Semidey

et al. 2022

Clinics and Practice

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Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and targeted next-generation sequencing. Results: A 32-year-old female (patient 1) and 65-year-old male (patient 2) were found to have URP. ffERG showed a non-recordable response in the affected eye and a response within normal limits in the fellow eye of patient 1, while patient 2 showed non-recordable responses in the apparently unaffected eye and a profound reduction in the photopic and scotopic responses in the affected eye. Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%. Segregation analysis was not possible for either of the mutations. Conclusion: This report expands the clinical and molecular genetic spectrum of URP.

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Section: Discussionmentioning

confidence: 45%

“…To the best of our knowledge, neither RPGR or AGBL5 mutations have been implicated previously in URP ( Table 3 ) [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

Milibari

Magliyah²,

Semidey

et al. 2022

Clinics and Practice

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“…Outros padrões de perda também existem como: perda de campo visual concêntrica sem formação de anéis de escotomas e perda de campo em padrão arqueado. Ademais, fotofobia e discromatopsia também fazem parte do espectro de manifestações clínicas, sendo esta última mais comum em estágios avançados, principalmente os defeitos visuais da cor azul (Verbakel et al, 2018 (Bhattarai et al, 2015;Stamate et al, 2016;Mercado et al, 2018;Bawankar et al, 2018;Errera et al, 2019). Fonte: (Bhattarai et al, 2015;Stamate et al, 2016;Mercado et al, 2018;Bawankar et al, 2018;Errera et al, 2019).…”

Section: Quadro Clínicounclassified

“…Todavia deve-se atentar a algumas patologias que podem causar uma retinopatia degenerativa semelhante à RPU, constituindo diagnósticos diferenciais, como: doenças infecciosas (rubéola congênita, toxoplasmose, sífilis), neoplásicas, inflamatórias (vasculites retinianas), trauma (corpo estranho intraocular, trauma contuso) e toxicidade por drogas (cloroquina/hidroxicloroquina, fenotiazinas) (Stamate et al, 2016;Mercado et al, 2018;Bawankar et al, 2018).…”

Section: Critérios De François E Verriest (1952)unclassified

Aspectos clínicos da retinose pigmentar: revisão integrativa

Castro

Santana

Naves³

et al. 2020

RSD

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Retinose Pigmentar (RP) é uma doença retiniana caracterizada por variadas mutações genéticas em sua patogênese, ela pertence a um grupo de distrofias retinianas progressivas herdadas geneticamente e decorre da morte do epitélio pigmentar da retina e dos fotorreceptores, sendo caracterizada pela degeneração de bastonetes, seguida pelos cones. Visando contribuir para um maior entendimento desse tema, visto seus impactos socioeconômicos e na qualidade de vida dos pacientes, realizou-se uma revisão integrativa de literatura com total de 22 artigos. Após análise, observou-se que a doença pode ser dividida em típica, mais comum, e atípica, de acordo com sua fisiopatologia, ou em sindrômica e não sindrômica, baseada no conjunto de manifestações clínicas. Além disso, os sintomas podem iniciar-se na infância ou vida adulta, com progressão imprevisível, sendo que a perda visual é classicamente simétrica e bilateral, inicialmente periférica, progredindo até restar apenas parte do campo visual central. Em relação ao exame oftalmológico, os principais achados foram depósitos de espículas ósseas pigmentadas perifericamente, associado a atrofia e/ou distrofia do epitélio pigmentar da retina, atenuação dos vasos retinianos, palidez do nervo óptico e mácula relativamente poupada. Exames complementares incluem mapeamento de campo visual central e periférico, eletrorretinografia, tomografia de coerência óptica, e autofluorescência de fundo de olho. O diagnóstico de RP relaciona-se com o aparecimento de sintomas depressivos, e seu manejo caracterizou-se por exigir abordagem multidisciplinar, de modo que o tratamento disponível é de suporte, com medidas auxiliares para baixa visão, testes e aconselhamento genético e tratamento de condições associadas, não havendo terapia curativa.

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“…RP1 was the first identified genetic cause of RP in 1999 in Nature Genetics. Over the last 19 years, nearly 100 different genes have been linked to RP, including 27 adRP genes, 58 arRP genes, and 3 XLRP genes [11]. Although the genetic cloning research for RP has achieved remarkable results and nearly 100 genes of RP have been found in patients, 50% of patients with RP still have unexplained genetic causes.…”

Section: Introductionmentioning

confidence: 99%

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports

Xiao

Jiang

et al. 2023

J Med Case Reports

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Background Retinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of peripheral field vision (tunnel vision), and eventual loss of central vision. However, a genetic cause cannot be determined in approximately 60% of cases. Case presentation Two non-consanguineous Yi minority ethnic group families who have a 6.4-year-old boy and a 0.5-year-old boy, respectively, were recruited for genetic diagnosis. Here, we used whole-exome sequencing to detect mutations in the genes of the probands of the retinitis pigmentosa families, and Sanger sequencing to confirm the causal mutations identified by whole exome sequencing. In addition, we report two cases with retinitis pigmentosa caused by RDH12 (c.524C > T) and PRPF4 (c.1273G > A) pathogenic mutations. Conclusions These results might extend the mutation spectrum of known retinitis pigmentosa genes and give these two Yi minority ethnic group families from Yunnan more precise genetic counseling and more specific prognoses.

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Unilateral retinitis pigmentosa in children

Cited by 3 publications

References 11 publications

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

Aspectos clínicos da retinose pigmentar: revisão integrativa

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports

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