Prophylactic laser photocoagulation of fundal coloboma: does it really help?

Tripathy, Koushik; Chawla, Rohan; Sharma, Yog Raj; Venkatesh, Pradeep; Sagar, Pradeep; Vohra, Rajpal; Singh, Harsh Inder; Kumawat, Babulal; Bypareddy, Ravi

doi:10.1111/aos.12975

Cited by 11 publications

(4 citation statements)

References 3 publications

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“…Regular fundoscopic exam is recommended to detect these vision-threatening complications early. Retrospective studies [ 45 , 47 ] suggest that prophylactic laser photocoagulation may reduce the risk of retinal detachment and conserve long-term visual acuity in eyes affected by retinochoroidal coloboma, but evidence to guide patient selection and timing is scarce. CHARGE patients in general benefit from a multidisciplinary approach, given their variable developmental delays and sometimes profound deficiencies in sight, hearing and smell [ 48 , 49 ].…”

Section: Discussionmentioning

confidence: 99%

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report

2022

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Background CHARGE syndrome is a relatively common cause of deafness and blindness resulting from failure to form the primordia of specific organs due to deficient contribution of neural crest cell derivatives. The majority of CHARGE syndrome cases are caused by heterozygous mutations in CHD7 on chromosome 8q21. Those with CHARGE syndrome without CHD7 mutation typically do not have an identified genetic defect. 7q11.23 duplication syndrome is associated with mild facial dysmorphism, heart defects, language delay, and autism spectrum disorder. In the current literature, 7q11.23 duplication has not been associated with CHARGE syndrome, retinochoroidal colobomas, or significant ear abnormalities. Case presentation We describe a patient with 7q11.23 duplication syndrome and clinical CHARGE syndrome with no variant in CHARGE-associated genes. Conclusions This case highlights the still incomplete understanding of the pathogenesis of CHARGE syndrome and raises the possibility of a dose-sensitive effect of genes in the 7q11.23 critical region on neural crest differentiation and fate.

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Section: Discussionmentioning

confidence: 99%

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report

2022

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“…As prophylactic laser delimitation of FC is a simple procedure known to limit spread of retinal detachment from colobomatous to non-colobomatous area, bilateral laser delimitation of the FC was done as early as possible in our case. [9] Also, our patient has been advised regular follow up with corneal tomography and topography studies to monitor for recurrence of hydrops in same eye and progression of ectasia (in view irregular cornea on pentacam) in other eye to prevent further ocular morbidity.…”

Section: Discussionmentioning

confidence: 99%

Unilateral acute hydrops in a child with bilateral microcornea and iridofundal coloboma

Agarwal

Nongrem

Maharana

et al. 2019

Indian J Ophthalmol

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A 15-year-old female child with history of bilateral poor vision since childhood presented with sudden onset pain, photophobia, and diminution of vision OD for 10 days. Visual acuity was hand motion OD and 1/60 OS. Slit lamp examination revealed microcornea OU with multiple intrastromal fluid clefts OD and an irregular cornea and iridofundal coloboma OS. A clinical diagnosis of acute corneal hydrops OD was made, and the child was subjected to intraoperative optical coherence tomography guided intrastromal fluid drainage with air tamponade. The corneal edema resolved completely within 2 weeks resuming visual acuity to 3/60 allowing laser delimitation of fundal coloboma OD.

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“…Tripathi et al reported their experience of prophylactic laser in 201 eyes with choroidal coloboma that were followed up for 3 years [ 80 ]. They describe four patterns of treatment.…”

Section: Introductionmentioning

confidence: 99%

Ocular coloboma—a comprehensive review for the clinician

Gopal

Sen²,

Vijaya

et al. 2021

Eye

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Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. The ocular manifestations vary widely. At one extreme, the eye is hardly recognisable and non-functional—having been compressed by an orbital cyst, while at the other, one finds minimalistic involvement that hardly affects the structure and function of the eye. In the fundus, the variability involves the size of the coloboma (anteroposterior and transverse extent) and the involvement of the optic disc and fovea. The visual acuity is affected when coloboma involves disc and fovea, or is complicated by occurrence of retinal detachment, choroidal neovascular membrane, cataract, amblyopia due to uncorrected refractive errors, etc. While the basic birth anomaly cannot be corrected, most of the complications listed above are correctable to a great extent. Current day surgical management of coloboma-related retinal detachments has evolved to yield consistently good results. Cataract surgery in these eyes can pose a challenge due to a combination of microphthalmos and relatively hard lenses, resulting in increased risk of intra-operative complications. Prophylactic laser retinopexy to the border of choroidal coloboma appears to be an attractive option for reducing risk of coloboma-related retinal detachment. However, a majority of the eyes have the optic disc within the choroidal coloboma, thus making it difficult to safely administer a complete treatment.

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Prophylactic laser photocoagulation of fundal coloboma: does it really help?

Cited by 11 publications

References 3 publications

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report

Unilateral acute hydrops in a child with bilateral microcornea and iridofundal coloboma

Ocular coloboma—a comprehensive review for the clinician

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