Congenital optic disc coloboma

A clinical case of observation of a 3-year-old child with a newly diagnosed optic nerve coloboma and multiple malformations is considered. The clinical picture and diagnostic methods necessary for the diagnosis are reflected. On the example of this child, the differential diagnosis with Charge syndrome is considered. Key words: coloboma, optic nerve coloboma, partial optic nerve atrophy, astigmatism, Charge syndrome.

Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia

Purpose: To evaluate the radial peripapillary vascular plexus of a cavitary congenital optic disc anomaly in a young patient with recessive autosomal metaphyseal acroscyphodysplasia using optical coherence tomography angiography (OCTA). Methods: Observational case report. Results: A 17-year-old man, with diagnosis of metaphyseal acroscyphodysplasia was referred to Eye Clinic for fundus examination and multimodal imaging for retinal epithelium hypertrophy in the right eye. Clinical examination showed cup-shaped metaphyses, short stature, hyperthelorism, and telecanthus. An optic disc coloboma was detected in the right eye on fundus examination. Wide field en-face Optical Coherence Tomography (OCT) showed a hyporeflective area corresponding to the right optic disc coloboma. At OCTA examination, the whole papillary region revealed a rarefaction of the vascular network, while the ganglion cell complex’s and retinal fiber layers’ parameters were normal in both eyes. Conclusion: The presence of coloboma disc congenital defect linked to embryological abnormalities during the development process could pave the way for a wider understanding of the pathogenesis of metaphyseal acroscyphodysplasia by increasingly framing it as a systemic disease.

Internal limiting membrane graft as a treatment for the retinal detachment secondary to an optic disc coloboma

Purpose: To report our anatomical outcome with the internal limiting membrane (ILM) graft procedure in the management of rhegmatogenous retinal detachment (RRD) secondary to optic disc coloboma (ODC). Methods: Description of a new surgical procedure in one eye of one patient who underwent pars plana vitrectomy (PPV) combined with ILM graft technique. Subsequent follow-up included optical coherence tomography (OCT) and visual acuity. Results: After only 1 week, the OCT revealed the ILM graft plugging the retinal tear with complete resorption of subretinal fluid. The sealing effect of this graft persisted after 6 months. However, visual outcome was poor and corrected distance visual acuity was 20/200 as a result of the previous long-standing retinal detachment with loss of photoreceptors. Conclusion: We suggest that ILM graft could be performed as a first line treatment in the management of RRD secondary to ODC. This direct closure of the retinal tears, allows a quick and effective interruption of the communication between the subretinal space and the vitreous cavity. Detecting these retinal tears and applying this technique as soon as possible could achieve not only an earlier anatomical success but obtain good visual results in retinal tears with RRD secondary to ODC. Further studies will be necessary to provide more evidences

Intravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. This report contributes to the evidence that maculopathies associated with cavitary optic nerve anomalies may in some instances result from choroidal neovascularisation. It also highlights the importance of angiography to identify potential choroidal neovascular membranes, particularly in the absence of haemorrhages and neovascular membranes on fundus examination and conventional optical coherence tomography.

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

Background Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs. By now, the syndrome has been reported in several large families from different ethnic backgrounds, with a high degree of inter- and intrafamilial variability. The genome locus responsible for TPT-PS has been mapped to the 7q36.3 region harboring a long-range sonic hedgehog (SHH) regulatory sequence (ZRS). Both single-nucleotide variants and complete duplications of ZRS were shown to cause TPT-PS and similar limb phenotypes. TPT-PS usually forms as isolated limb pathology not associated with additional malformations, in particular, with cardiovascular abnormalities. Case presentation Here we report on a rare Russian neonatal case of TPT-PS combined with severe congenital heart disease, namely double outlet right ventricle, and microphthalmia with optic disc coloboma. Pedigree analysis revealed TPT-PS of various expressivity in 10 family members throughout five generations, while the cardiac defect and the eye pathology were detected only in the proband. To extend the knowledge on genotype–phenotype spectrum of TPT-PS, the careful clinical and genomic analysis of the family was performed. High-resolution array-based comparative genomic hybridization (array-CGH) revealed a ~ 300 kb microduplication of 7q36.3 locus (arr[GRCh37] 7q36.3(156385810_156684811) × 3) that co-segregated with TPT-PS in the proband and her mother. The duplication encompassed three genes including LMBR1, the intron 5 of which is known to harbor ZRS. Based on whole-exome sequencing data, no additional pathogenic mutations or variants of uncertain clinical significance were found in morbid cardiac genes or genes associated with a microphthalmia/anophthalmia/coloboma spectrum of ocular malformations. Conclusions The results support the previous data, indicating that complete ZRS duplication underlies TPT-PS, and suggest a broader phenotypic impact of the 7q36.3 microduplication. Potential involvement of the 7q36.3 microduplication in the patient’s cardiac and eye malformations is discussed. However, the contribution of some additional genetic/epigenetic factors to the complex patient`s phenotype cannot be excluded entirely. Further comprehensive functional studies are needed to prove the possible involvement of the 7q36.3 locus in congenital heart disease and eye pathology.

Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases

Optic disc coloboma (ODC) is a rare congenital anomaly of the optic nerve. Optical coherence tomography (OCT) helps to monitor the complications when there is associated retinoschisis, retinal detachment, or peripapillary neovascularization, while being minimally invasive. OCT angiography could help to better understand this entity from a vascular perspective. We report multimodal imaging of 3 children with large ODC associated with cat eye syndrome, CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities), and branchio-oculo-facial syndrome.