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IntroductionIn Japan, inherited retinal dystrophy caused by biallelic variants of the RPE65 gene is exceedingly rare. The purpose of this study was to describe a Japanese male patient with a novel variant in RPE65 associated with Leber congenital amaurosis (LCA).Case reportThe patient, diagnosed with LCA, exhibited infantile nystagmus and reported experiencing night blindness since early childhood. At 27 years of age, the patient underwent an ophthalmologically evaluation. Corrected visual acuity was Snellen equivalent 20/133 in the right eye and Snellen equivalent 20/100 in the left eye. Fundus examination revealed alterations in the retinal pigment epithelium characterized by hypopigmentation and narrowing of retinal vessels. Fundus autofluorescence imaging demonstrated a generally diminished autofluorescent signal. Full-field electroretinography identified a generalized dysfunction of both rod and cone systems in each eye. Whole exome sequencing identified a novel missense variant in RPE65 (NM_000329.3): c.1172C > A p.(Ala391Asp), which was classified as pathogenic, as well as a recurrent variant p.(Arg515Trp).ConclusionThis study provides valuable insights into the genotype–phenotype correlation of RPE65-associated LCA in Japanese patients, with critical implications for enhanced diagnostic accuracy and informed therapeutic decisions.

Abstract Cavitary lung lesions are uncommon radiological findings in cytomegalovirus pneumonia, and tissue biopsy is rarely performed for diagnosis. A 67‐year‐old man presented with a wet cough. Extensive white moss in the oral cavity was found on physical examination, and chest computed tomography revealed an approximately 4 cm cavitary lesion in the upper lobe of the right lung. Blood tests showed a critically low CD4+ T lymphocyte count and positivity for human immunodeficiency virus type 1 antibodies. A transbronchial biopsy of the cavitary lung lesion was performed, and inclusion bodies in the nuclei of enlarged alveolar epithelial cells were seen in the histopathological findings. Immunohistochemistry staining for cytomegalovirus was positive, and cytomegalovirus pneumonia was diagnosed. Ganciclovir treatment was initiated, and the symptoms and imaging findings resolved. Cytomegalovirus pneumonia can present as cavitary lung lesions in patients with acquired immunodeficiency syndrome, and a transbronchial biopsy is essentially useful for a definitive diagnosis.

Abstract A 75‐year‐old woman presented at our hospital with bilateral visual impairment. Ophthalmological examination revealed multiple choroidal tumours. Chest computed tomography revealed a tumour shadow in the right lower lobe and multiple lymph node metastases in the mediastinum and pulmonary hilum. Following a detailed examination, the patient was diagnosed with primary lung adenocarcinoma (cT1cN3M1c Stage IVB) with choroid metastases. The tumour proportion score of programmed death ligand 1 (PD‐L1) was 1% and EGFR exon 20 insertion mutations were also detected. The patient was administered combination chemotherapy with nivolumab and ipilimumab. Primary lung and metastatic tumours, including the choroid, were reduced, and visual disturbances improved completely. Herein, we describe a rare case in which a combination of chemotherapy with nivolumab and ipilimumab significantly reduced vision loss due to choroidal metastasis.