Evaluation of Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum

ABSTRACT Purpose: To assess Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum and correlate with ocular surface changes. Methods: This cross-sectional study evaluated patients with xeroderma pigmentosum. All patients underwent a comprehensive and standardized interview. The best-corrected visual acuity of each eye was determined. Detailed ophthalmic examination was conducted, including biomicroscopy examination of the ocular surface, Schirmer test type I, and meibography, and fundus examination was also performed when possible. Meibomian gland dysfunction was assessed by non-contact meibography using Oculus Keratograph® 5M (OCULUS Inc., Arlington, WA, USA). Saliva samples were collected using the Oragene DNA Self-collection kit (DNA Genotek Inc., Ottawa, Canada), and DNA was extracted as recommended by the manufacturer. Factors associated with abnormal meiboscores were assessed using generalized estimating equation models. Results: A total of 42 participants were enrolled, and 27 patients underwent meibography. The meiboscore was abnormal in the upper eyelid in 8 (29.6%) patients and in the lower eyelid in 17 (62.9%). The likelihood of having abnormal meiboscores in the lower eyelid was 16.3 times greater than that in the upper eyelid. In the final multivariate model, age (p=0.001), mutation profile (p=0.006), and presence of ocular surface malignant tumor (OSMT) (p=0.014) remained significant for abnormal meiboscores. For a 1-year increase in age, the likelihood of abnormal meiboscores increased by 12%. Eyes with OSMT were 58.8 times more likely to have abnormal meiboscores than eyes without ocular surface malignant tumor. Conclusion: In the final model, age, xeroderma pigmentosum profile, previous cancer, and clinical alterations on the eyelid correlated with a meiboscore of ≥2. Meibomian gland dysfunction was common in patients with xeroderma pigmentosum, mainly in the lower eyelid. The severity of Meibomian gland dysfunction increases with age and is associated with severe eyelid changes.

Scleral communication between Glaucoma drainage device capsule and the suprachoroidal space simulating amelanotic choroidal melanoma / Comunicação escleral entre a cápsula de dispositivo de drenagem para glaucoma e o espaço supracoroidal simulando melanoma de coroide amelanótico

ABSTRACT This is a case report involving a 56-year-old male patient with a history of pars plana vitrectomy due to a rhegmatogenous retinal detachment in the right eye that resulted in the implantation of a drainage device after the patient developed secondary glaucoma. Two years after the device's implantation, the patient was referred to our care as his visual acuity had decreased to 20/200 (1.00 LogMAR). At the fundus evaluation, a choroidal amelanotic elevation was observed at the upper temporal equator, and a potential diagnosis was made of amelanotic choroidal melanoma. The ultrasound exam visualized the patient's implanted superotemporal justabulbar drainage device, which revealed a transscleral communication from the plate fibrocapsular's draining space to the suprachoroidal space (fistula). The ultrasound also revealed a focal pocket of choroidal detachment in the patient's superotemporal region, simulating an amelanotic choroidal melanoma. A new pars plana vitrectomy was performed to remove the internal limiting membrane without repercussions at the fistula site. The patient's recovery progressed well, and he regained a visual acuity of 20/70 (0.55 LogMAR). To the best of our knowledge, this is the first case report of this condition.

RESUMO Relato de caso de paciente 56 anos, sexo masculino, com histórico de vitrectomia via pars plana por descolamento de retina em olho direito e posterior implante de dispositivo de drenagem por glaucoma secundário. Dois anos após o procedimento foi encaminhado ao serviço por baixa de acuidade visual (AV) de 20/200 (1.00 LogMAR). À fundoscopia, observou-se uma elevação amelanótica temporal no equador com hipótese diagnóstica de melanoma de coroide amelanótico. O exame de ultrassom mostrou implante de dispositivo de drenagem justabulbar temporal superior com comunicação transescleral para espaço subcoroidal (fístula), sugerindo bolsão focal de descolamento de coroide em equador temporal superior simulando melanoma de coroide amelanótico. O paciente foi abordado cirurgicamente devido membrana epirretiniana com nova vitrectomia via pars plana para peeling de membrana limitante interna, sem repercussões no local da fístula, evoluindo bem com acuidade visual de 20/70 (0.55 LogMAR). Ao nosso conhecimento, este é o primeiro caso relatado nessa condição.

Effects of oral propranolol for circumscribed choroidal hemangioma / Efeitos do propranolol oral para de hemangioma circunscrito de coroide

ABSTRACT Purpose: We aimed to evaluate the effects of oral propranolol for circumscribed choroidal hemangioma. Methods: In this prospective, longitudinal interventional study, we administered oral propranolol at a dosage of 1.5 mg/kg/day to five patients with circumscribed choroidal hemangioma. We then evaluated visual acuity, binocular indirect ophthalmoscopy, optical coherence tomography, optical coherence tomography angiography, fluorescein and indocyanine green angiography, and ocular ultrasonography at regular intervals and compared changes from the baseline assessments. Results: No clinical or diagnostic changes were observed in the sizes of the circumscribed choroidal hemangiomas during treatment. Complications due to the hemangioma were reduced in the first four months of treatment, followed by maintenance, before worsening in the subsequent three months. Conclusions: The study showed that oral propranolol at a dose of 1.5 mg/kg/day did not offer effective monotherapy in the treatment of circumscribed choroidal hemangioma.

RESUMO Objetivo: Avaliar o efeito do propranolol oral para hemangioma circunscrito da coroide. Métodos: O estudo é do tipo prospectivo, quantitativo e descritivo. Propranolol oral na dose de 1.5 mg/kg/dia foi administrada em cinco pacientes com hemangioma circunscrito da coroide. Todos os pacientes foram avaliados com acuidade visual, oftalmoscopia binocular indireta, tomografia de coerência óptica, angiografia com tomografia de coerência óptica, angiografia com fluoresceína e indocianina verde e ultrassonografia ocular. Resultados: Nenhuma mudança clínica ou no tamanho do hemangioma circunscrito da coroide foi vista através de métodos diagnósticos em qualquer momento do tratamento. Uma atenuação das complicações foi observada nos primeiros quatro meses de tratamento, com manutenção da condição e piora nos meses seguintes. Conclusão: O estudo mostrou que o propranolol oral na dose de 1.5 mg/kg/dia não se mostrou efetivo como monoterapia no tratamento do hemangioma circunscrito da coroide.

Iris metastases from systemic cancer: a report of three cases / Metástase de íris de câncer sistêmico: relato de três casos

ABSTRACT Ocular metastasis is relatively uncommon, with a reported incidence of approximately 8%, according to the results of autopsy evaluation. The majority of ocular metastases are located within the choroid, while metastatic tumors affecting the iris are rare. Metastatic tumors may manifest as stromal nodules or ill-defined iris thickening, or they may present with nonspecific features such as pain, iridocyclitis, and hyphema. Here, we describe three patients with iris metastasis and discuss the diagnostic challenges and unusual findings associated with these cases.

RESUMO A maioria das metástases oculares do câncer sistêmico são encontrados na coroide. As metástases para a íris são incomuns, podendo se manifestar como nódulo estromal, espessamento de íris de limites mal definidos ou como uma iridociclite ou hifema. Relatamos 3 pacientes com lesão de íris e história pregressa de câncer sistêmico. Enfatizamos a dificuldade no diagnóstico e raridade dessas lesões comparando com relatos anteriores.