The purpose of the present case is to describe a patient with tractional retinal detachment (RD) associated with contractile morning glory: a 17-year-old female, with a history of failed surgery for RD when she was 2 years old in her right eye (OD), nystagmus, and a limited visual acuity in the left eye (OS). The slit lamp examination showed phthisis bulbi in OD and the anterior segment was unremarkable in OS. Dilated fundus examination revealed a tractional RD in the posterior pole and peripapillary and preretinal fibrosis without evidence of intravitreal dispersion of retinal pigment epithelial cells. After surgery treatment, the RD resolved and the posterior segment showed a staphylomatous excavation around the optic disc anomaly with irregular contractions that folded the macular area. This were unrelated to light, breathing, or eye movements. Although morning glory disc anomaly is associated with RD, the early diagnosis can reverse structural changes. In this case, the rare association with contractile movements was found posterior to the pars plana vitrectomy after all the fibroglial epiretinal tissue was removed.

BACKGROUND Vitrectomy and internal limiting membrane peeling has been the Gold Standard for macular hole treatment since the 90s with high closure rates for idiopathic macular holes, however those larger than 400 um or from other etiologies didn’t have such good outcomes. Over the years, different techniques were developed to increase anatomical and functional success rates, most of them using scaffold tissues; autologous retinal graft showed promising results in these cases, achieving higher closure rates and visual acuity improvement. SUBJECTS AND METHODS Observational prospective case series. 6 eyes treated with autologous retinal graft for complex macular holes were included. Baseline best corrected visual acuity (BCVA) and ocular coherence tomography (OCT) were collected. After 12 months of surgery, in all cases a complete ophthalmological examination, OCT, microperimetry, color vision and contrast sensitivity tests were performed at last follow-up. RESULTS 6 eyes were included with a minimal diameter of 781.7 ± 157.4 um. Initial BCVA was 0.8 ± 0.1 logMAR; all eyes showed improvement or stability: 0.7 ± 0.2 (p: 0.455) at 12-months, that remained stable in most cases at the end of follow-up (p: 0.30), reaching an 83% anatomical and 67% functional success rates. Color vision tests were normal in most of the eyes with a mild tritanopia in one case, regarding contrast sensitivity 5 eyes showed improvement. Microperimetry show some generalized sensitivity loss and residual microescotomas, and fixation stability was variable. CONCLUSIONS Autologous retinal graft is an efficient technique for complex macular hole repair with good functional and anatomical outcomes.

Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and related syndromes need to be ruled out. We present two cases of microcephaly and chorioretinopathy in Mexican patients, their clinical characterization, and discuss the differential diagnoses that should be considered. An 8-year-old girl was examined due to a history of decreased vision in both eyes. Fundus examination showed excavated, well-defined, sectorial, bilateral, and symmetrical areas of chorioretinal atrophy. An 18-year-old male had a history of poor vision since childhood. Previous ophthalmological examinations reported bilateral symmetric chorioretinal atrophy with pigment accumulation. Both patients had a prior diagnosis of microcephaly and language delay. Blood tests and a comprehensive systemic evaluation ruled out intrauterine infections. The electroretinogram showed decreased amplitude and increased implicit time in the photopic and scotopic responses. Genetic tests revealed mutations in the TUBGCP4 gene, leading to a diagnosis of microcephaly and chorioretinopathy. As observed in these cases, there was variability in retinal lesions. The presence of chorioretinal lacunae and genetic testing can help to correctly diagnose this disorder.

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