Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis

Magan, Tejal; Tanner, Alexander; Fajardo-Sanchez, Julia; Lim, Kin Sheng; Goyal, Saurabh; Rodrigues, Ian; Amaya, Luis; Trikha, Sameer; Kulkarni, Avinash; Hammond, Christopher J; Lascaratos, Gerassimos; Yu‐Wai‐Man, Cynthia

doi:10.1177/11206721211073208

Cited by 4 publications

(2 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In Saudi Arabia the incidence of PCG is 1 in 2500 live births. Among Romani individuals, where there is a strong founder effect, the rate is 1 in 1250 live births [7][8][9].…”

Section: Epidemiologymentioning

confidence: 99%

Primary congenital glaucoma

Nowak,

Dyda,

Górczyńska

et al. 2024

polp

View full text Add to dashboard Cite

Primary congenital glaucoma (PCG) is a developmental disorder affecting the trabecular meshwork and anterior chamber angle, leading to increased intraocular pressure (IOP) and potential vision loss. The early symptoms of PCG are already apparent during the first medical visits. Early diagnosis is crucial to be able to implement appropriate treatment to prevent the disease from developing as soon as possible. Its onset occurs before age three, with nonspecific symptoms such as eye rubbing, photophobia, and blepharospasm. Despite rare occurrence and heterogeneous prevalence depending on the geographical region, PCG accounts for a significant proportion of childhood blindness. The etiology of PCG involves genetic factors; the kinship of parents may increase its prevalence. Nonspecific symptoms of PCG necessitate vigilant examination to enable early detection. Diagnostic criteria include elevated IOP, optic nerve damage, corneal changes, and visual field defects. Treatment mainly relies on goniotomy and trabeculectomy in combination with pharmacotherapy.

show abstract

“…In Saudi Arabia the incidence of PCG is 1 in 2500 live births. Among Romani individuals, where there is a strong founder effect, the rate is 1 in 1250 live births [7][8][9].…”

Section: Epidemiologymentioning

confidence: 99%

Primary congenital glaucoma

Nowak,

Dyda,

Górczyńska

et al. 2024

polp

View full text Add to dashboard Cite

show abstract

“…[8] In childhood glaucoma, surgery is the preferred treatment and angle surgery is the most frequently performed procedure. [11] If medical treatments are not successful in controlling IOP, implantation of a glaucoma drainage device can also be done for aniridia patients above infancy or early childhood. [8] In this case, the glaucoma condition of both patients was treated medically with eyedrops and oral IOP-lowering drugs.…”

Section: The Second Patientmentioning

confidence: 99%

Familial Congenital Aniridia with Subluxated Lens and Glaucoma

Perwitasari,

Hermawan

2023

VSEHJ

View full text Add to dashboard Cite

Introduction: Congenital aniridia is a bilateral iris aplasia or hypoplasia associated with other ocular disorders. The purpose of this case report is to describe the clinical manifestation of congenital aniridia in two members of one family. Case Presentation: The first patient (mother) is a 43-year-old and the second patient (daughter) is a 12-year-old. Both patients complained of blurred vision since childhood. The visual acuity of the first patient was a positive light perception on the right eye (RE) and no light perception on the left eye (LE); the visual acuity of the second patient was 1/60 on the RE and 3/32 on the LE. Both patients had horizontal nystagmus and increased intraocular pressure (IOP) (N+1 palpation) in both eyes. Anterior segment abnormalities of both patients include aniridia with iris rudimentary and superiorly subluxated lens. The first patient also had LE corneal leukoma and RE cataract. The second patient also had right and left eye corneal conjunctivalization. Fundus examination showed no fundus reflex on the first patient and tigroid retina with foveal hypoplasia on the second patient. Eye ultrasounds of both patients showed vitreous opacity. Conclusions: Congenital aniridia primarily originates from a mutation in the paired box gene-6 (PAX6) and is associated with other ocular anomalies such as nystagmus, amblyopia, keratopathies, cataract, lens luxation, glaucoma, fovea, optic nerve hypoplasia. Patients in this case showed similar conditions between mother and daughter, however, the mother's condition was more advanced and more degenerated than the daughter's condition.

show abstract