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1.
Indian J Ophthalmol ; 68(2): 362-367, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31957728

RESUMO

Purpose: To study the role of teleophthalmology (TO) in the diagnosis and treatment of anterior segment conditions (including adnexal conditions) in rural areas. Methods: This is a pilot study of 5,604 patients, who visited primary vision centres (VCs) for 1 week from 1-7 September 2018. The patients were examined by a vision technician (VT) to identify those who may need teleconsultation. The centres were located in 16 districts of four Indian states of Andhra Pradesh, Telangana, Odisha, and Karnataka. The demographic profile, along with the role of teleconsultation was reviewed. Results: Teleconsultation was advised in 6.9% of the patients, out of which 59.6% were referred to a higher level of care, and 40.4% were treated directly at the VC. Teleconsultations were higher among males (7.0% as compared to 6.6% in females), though not statistically significant (P = 0.55). Teleconsultation was higher in the older population, that is, 60 years and above (14.5%); those with severe visual impairment (VI) (21%) and blindness (31.1%); and in the states of Telangana (11%) and Andhra Pradesh (6.3%). It was noted that 45% of the patients who underwent teleconsultation had pathologies related to ocular surface, cornea and lid, and adnexa-related conditions. Conclusion: Teleconsultation has a significant role in the management of anterior segment conditions in bridging the gap between the patients and ophthalmologists in rural India. TO can also play an important role in the diagnosis and management of anterior segment, lid, and adnexa-related pathologies.


Assuntos
Segmento Anterior do Olho/diagnóstico por imagem , Gerenciamento Clínico , Oftalmologia/métodos , Telemedicina/métodos , Transtornos da Visão/terapia , Acuidade Visual , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Incidência , Índia/epidemiologia , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Transtornos da Visão/diagnóstico , Adulto Jovem
2.
Hum Genet ; 136(8): 941-949, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28620713

RESUMO

Primary congenital glaucoma (PCG) is a severe autosomal recessive ocular disorder associated with considerable clinical and genetic heterogeneity. Recently, rare heterozygous alleles in the angiopoietin receptor-encoding gene TEK were implicated in PCG. We undertook this study to ascertain the second mutant allele in a large cohort (n = 337) of autosomal recessive PCG cases that carried heterozygous TEK mutations. Our investigations revealed 12 rare heterozygous missense mutations in TEK by targeted sequencing. Interestingly, four of these TEK mutations (p.E103D, p.I148T, p.Q214P, and p.G743A) co-occurred with three heterozygous mutations in another major PCG gene CYP1B1 (p.A115P, p.E229K, and p.R368H) in five families. The parents of these probands harbored either of the heterozygous TEK or CYP1B1 alleles and were asymptomatic, indicating a potential digenic mode of inheritance. Furthermore, we ascertained the interactions of TEK and CYP1B1 by co-transfection and pull-down assays in HEK293 cells. Ligand responsiveness of the wild-type and mutant TEK proteins was assessed in HUVECs using immunofluorescence analysis. We observed that recombinant TEK and CYP1B1 proteins interact with each other, while the disease-associated allelic combinations of TEK (p.E103D)::CYP1B1 (p.A115P), TEK (p.Q214P)::CYP1B1 (p.E229K), and TEK (p.I148T)::CYP1B1 (p.R368H) exhibit perturbed interaction. The mutations also diminished the ability of TEK to respond to ligand stimulation, indicating perturbed TEK signaling. Overall, our data suggest that interaction of TEK and CYP1B1 contributes to PCG pathogenesis and argue that TEK-CYP1B1 may perform overlapping as well as distinct functions in manifesting the disease etiology.


Assuntos
Citocromo P-450 CYP1B1/genética , Glaucoma/congênito , Glaucoma/genética , Receptor TIE-2/genética , Alelos , Estudos de Coortes , Citocromo P-450 CYP1B1/metabolismo , Feminino , Frequência do Gene , Genoma Humano , Genômica , Células HEK293 , Haplótipos , Heterozigoto , Células Endoteliais da Veia Umbilical Humana , Humanos , Desequilíbrio de Ligação , Masculino , Mutação de Sentido Incorreto , Linhagem , Receptor TIE-2/metabolismo , Reprodutibilidade dos Testes , Alinhamento de Sequência , Análise de Sequência de DNA
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