Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

Abstract

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome.

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3′ splice acceptor site of intron 2

“…9,12,29-31 CYP1B1 is responsible for 87% of familial and 27% of sporadic PCG cases worldwide. 32,33 CYP1B1 is a member of the CYP450 super family and had been mapped to the 2p21-22 region having three exons out of which two are coding. 5,[34][35][36] Wild type CYP1B1 protein expresses in different human ocular tissues including cornea, ciliary body, iris, and retina.…”

Vision Screening in Preschool Children: Should a child be admitted to the glaucoma screening?

“…U dječjoj dobi glaukom je karakteriziran također poveća-nim intraokularnim tlakom i oštećenjem vidnog živca, što može dovesti do sljepila 20 . European Glaucoma Society razlikuje primarni kongenitalni glaukom i rani juvenilni glaukom te sekundarni glaukom 21 . Primarni kongenitalni i rani juvenilni glaukom javljaju se zbog poremećaja u razvoju trabekularnog tkiva.…”

“…Primarni kongenitalni i rani juvenilni glaukom javljaju se zbog poremećaja u razvoju trabekularnog tkiva. Primarni kongenitalni glaukom javlja se od rođenja do druge godine života 21,22 , većinom sporadično, no u 10 % do 40 % uključuje konsangvinitet. Rani juvenilni glaukom javlja se od druge godine života do puberteta.…”

“…U objavljenim prikazima slučajeva rijetkih bolesti koje u svojoj kliničkoj slici inače nisu prezentirane glaukomom (npr. otopalatodigital sindrom tip II, kompletna androgena neosjetljivost, pseudotrisomija 13, Brachman-de Lange sindrom, autosomno recesivna akrofrontofacionazalna distoza, kaudalni regresijski sindrom i Wolf-Hirschhorn sindrom) evidentirana je i prisutnost glaukoma u navedenim slučajevima 21 . Općenito, može se reći da je skrb o djetetu s glaukomom složena.…”

Agreement in central corneal thickness measurements between optical and ultrasound pachymeters in patients with primary congenital glaucoma

“…The major limitation of the present study is small sample size and including both eyes of some patients in statistical analysis. However, PCG is a rare disorder, 3 and recruiting a large sample size of patients with PCG is much harder than other types of adult glaucoma. To compare the mean differences, we used a cluster analysis (in which, two eyes of each patient were considered as a cluster) to account for paired eye correlation.…”