Une famille atteinte de colobomes irido-choroïdiens, d’hétérochromie irienne et de syndrome de Marian abortif

Ammann, F; Klein, Dorothee; Johr, P

doi:10.1159/000304576

Cited by 3 publications

(1 citation statement)

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“…Its incidence is 1/100,000 births [3]. They represent the most common types of all coloboma eye conditions [4]. Over 5 years (between June 2014 and June 2019), we found 3 cases of chorioretinal coloboma out of a total of 23,270 visits or a frequency of 0.00013 or 0.013%.…”

Section: Joj Ophthalmology Discussionmentioning

confidence: 73%

Irido-Chorio-Retinal Colobomas: About 3 Cases in Eye Center of Abass Ndao Hospital

Pierre

Abou²,

Aissatou³

et al. 2022

JOJO

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Aim: To describe clinical and prognostic characteristics of irido-chorio-retinal colobomas through 3 cases. Observations:The average age of the three patients was 12,66 years. The sex-ratio was 0,5 with female predominance (66,7%). The three patients were admitted for a severe visual impairment and automated refraction test did not work for the two eyes. They all presented a nuclear cataract and an inferior iris coloboma for the two eyes. All the patients had bilateral chorio-retinal colobomas including papilla. The pediatric examination found one case of cryptorchidism but was normal for the two other patients. B-scan ocular ultrasound found a chorio-retinal defect facing the optical nerve for one patient. We managed the low vision and prescribed sunglasses to avoid photophobia. A cataract surgery was realized, and we also gave a genetic counselling. No patient had a retinal detachment. Discussion & Conclusion:Chorio-retinal coloboma is a rare and serious disease, because of its evolution and complications. It requires early, appropriate, and multidisciplinary treatment.

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Section: Joj Ophthalmology Discussionmentioning

confidence: 73%

Irido-Chorio-Retinal Colobomas: About 3 Cases in Eye Center of Abass Ndao Hospital

Pierre

Abou²,

Aissatou³

et al. 2022

JOJO

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Ocular coloboma

Pagon

1981

Survey of Ophthalmology

200

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Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Patients with multiple malformations and coloboma may have a recognized malformation syndrome of unknown etiology, a single gene disorder, or chromosomal abnormality. Prognosis and recurrence risk can be determined only after complete evaluation of the patient and other family members.

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Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling

LeBlanc

Taranath

Morris

et al. 2014

Journal of American Association for Pediatric Ophthalmology and

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Une famille atteinte de colobomes irido-choroïdiens, d’hétérochromie irienne et de syndrome de Marian abortif

Cited by 3 publications

References 0 publications

Irido-Chorio-Retinal Colobomas: About 3 Cases in Eye Center of Abass Ndao Hospital

Irido-Chorio-Retinal Colobomas: About 3 Cases in Eye Center of Abass Ndao Hospital

Ocular coloboma

Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling

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