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An optic disk melanocytoma is a benign pigmented neoplasm of the optic disk measuring 2.00 mm of diameter in average. Smaller optic disk melanocytomas are rare and have not been studied with multiple imaging studies. A case of a "micro" optic disk melanocytoma measuring 0.71 mm in diameter was studied by multiple imaging modalities, including fundus autofluorescence, ultrasound, visual fields, optical coherence tomography (OCT) and OCT angiography. While clinical appreciation and fundus autofluorescence reveal changes compatible with previously reported cases, OCT, OCT angiography and ultrasound reveal specific changes that could be useful for follow up.

PURPOSE To illustrate the features of unilateral retinal pigment epithelium dysgenesis (URPED) in an African-American male patient. METHODS Case report. RESULTS A 47-year-old asymptomatic African-American man was referred for an atypical subretinal pigmented mass in the left eye. On examination, visual acuity was 20/20 in both eyes. The right eye was unremarkable. The left eye revealed a darkly pigmented grey-black lesion at the level of the RPE with irregular, unraveled fringe-like margins, consistent with URPED. The lesion measured 5 mm in basal dimension and was located 400 μm from the foveola. The dark portion of the lesion was grey-black and demonstrated homogeneous hypoautofluorescence, particularly at the site of grey-white peripheral fringe of fibrous metaplasia. By contrast, there was an additional, subtle lacey arrangement of normal-appearing RPE traversing over the entire lesion demonstrating isoautofluorescence. On fluorescein angiography, the lesion was generally hypofluorescent, particularly in the dark portion of the lesion, but the peripheral fringe of fibrous metaplasia displayed angiographic hyperfluorescent staining, and the subtle lacey normal RPE showed isofluorescence. Optical coherence tomography demonstrated RPE hyperplasia and shallow RPE detachment interspersed with normal-appearing RPE and thinning of outer retina and preservation of the foveola and choroid. CONCLUSION In this case, URPED demonstrated biphasic autofluorescence implying RPE dysfunction in the hypoautofluorescent area and partial RPE function in the lacey isoautofluorescent region.

Purpose: Retinoblastoma is the most frequent intraocular neoplasm of childhood. While survival rates, globe salvage, and disease stage at presentation have significantly improved in the last decades in high-income countries (HICs), retinoblastoma remains a clinical challenge in low and middle-income countries (LMICs). Furthermore, novel therapies such as intraarterial chemotherapy (IAC) are often unavailable, or underused, in middle or low-income countries. Methods: We present a retrospective case series, where we examine the outcomes of 6 eyes in 6 patients who received IAC as primary, or secondary, therapy for retinoblastoma. Results: Four eyes resulted in disease remission, while two ultimately were enucleated due to ophthalmic artery anatomic issues. Nevertheless, all patients remain disease free at last follow-up. Conclusion: Intraarterial chemotherapy is a safe and effective alternative for treating retinoblastoma. Unfortunately, due to disparity in healthcare access between different socioeconomic strata, it is not a common therapy in Mexico. Further work needs to be undertaken, such as increasing awareness of this disease, inter-institutional twinning, and overall improvement in healthcare access.

Retinoblastoma (Rb) most frequently presents as a unilateral sporadic disease up to 40% of cases, however, arise from a monoallelic germline pathogenic variant. Only 10% of the germline mutations are inherited, and high penetrance is seen in up to 90% of these cases. As an effort to optimize counseling and screening, mutations are classified according to inheritance patterns. However, RB1 spectrum is highly heterogeneous, and information for unaffected carriers remains scarce.The Mexican family of a 5-month-old patient diagnosed with Rb was studied. The family consisted of five individuals (father, mother, and three siblings). Genetic testing using a next-generation sequencing assay targeting RB1 with oligonucleotide baits designed to capture its exons and 20 bases flanking intronic sequences was performed in every family member. Clinical history and a complete ophthalmological examination (best-corrected visual acuity, slit-lamp biomicroscopy, macular optical coherence tomography, fundus autofluorescence, optical coherence tomography angiography, and electrophysiological studies) were performed in members testing positive to RB1 mutation.The father and her five-month-old daughter tested positive for a non-synonymous RB1 mutation c.459del (p.Lys154Serfs*21). The girl presented with bilateral retinoblastoma, successfully treated with cryotherapy and intravenous chemotherapy. The father had no relevant findings on imaging studies or ophthalmologic evaluation.This report describes a rare case of a novel low-penetrance RB1 germline mutation. Long-term follow-up of the father will include periodic evaluation of the eyes and orbits, and surveillance for systemic sarcoma and secondary malignancies. Implications for unaffected individuals need to be further studied.