We report the cases of a father and his daughter, the former diagnosed with retinitis pigmentosa (RP) and the latter with early foveal atrophy; while both shared a novel variant of uncertain significance (VUS) in the ACBD5 gene (variant c.431G>A), they exhibited different clinical profiles and disease manifestations. The father was a 48-year-old man who presented with nyctalopia that had persisted since age seven. He had mild disk pallor, vessel attenuation, retinal pigment epithelium (RPE) changes nasal to the fovea, and few midperipheral bone spicules. Sequencing analysis showed that he carried seven VUS in five genes: ACBD5 c.431G>A (p.Gly144Asp), CYP4V2 c.296T>C (p.Met99Thr), EYS c.1852G>A (p.Gly618Ser), HMCN1 c.280G>A (p.Val94Met), HMCN1 c.8939A>C (p.Asn2980Thr), RP1L1 c.575C>A (p.Pro192His), and RP1L1 c.1375A>C (p.Thr459Pro). He shared only the ACBD5 gene with his 18-year-old daughter. The daughter had 20/20 visual acuity, but further testing showed foveal atrophy and hyperautofluorescence. Intrafamilial phenotypic heterogeneity was detected in our patients. Studies on the role of hormonal factors leading to phenotypic variability are warranted.

We report on a case of focal retinitis as the initial manifestation of cat-scratch disease. A 56-year-old Hispanic woman presented for a routine follow-up examination. A fundus examination of the right eye revealed a white retinal lesion along the inferotemporal artery; this lesion was noted to have progressed after one week of observation. On further inquiry, the patient reported she had seven cats at home, some of which were less than six months old and had recently scratched her. She received empirical treatment for focal retinitis with azithromycin (500 mg daily) and valacyclovir (1 g three times daily), which would cover the most common parasitic, viral, and bacterial etiologies. She was lost to a follow-up examination. However, she continued the same dose of antibiotic and antiviral treatment. Upon her eventual follow-up, three months later, it was noted that the lesion had resolved. The initial work-up revealed that she was positive for Bartonella henselae IgM (1:20) and IgG (1:512), as well as for B. quintana IgG (1:256); however, she was negative for B. quintana IgM. At a four-month follow-up appointment, the B. henselae IgM was negative, the IgG had decreased from 1:512 to 1:64, and the B. quintana antibody test was negative for IgM and IgG, all of which are consistent with an adequately treated case of cat-scratch disease. Focal retinitis can be a rare initial manifestation of cat-scratch disease, which should be considered part of the differential diagnosis in cases of focal retinitis, especially in patients with a history of close contact with young cats. Additionally, oral azithromycin may be considered as a treatment for some cases of cat-scratch-associated focal retinitis.

We report on a case of central serous chorioretinopathy (CSCR) secondary to chronic steroid use that showed sustained improvement when treated with an aflibercept intravitreal injection. A 44-year-old woman presented with decreased visual acuity of the left eye (OS). The patient had a recent history of myasthenia gravis and was being treated with systemic corticosteroids and immunosuppressants. At presentation, her visual acuity was 20/80 OS; an examination (using fluorescein angiography) of the left fundus revealed a serous retinal detachment of the posterior pole that extended to the mid-periphery and multiple areas of leakage, which findings were consistent with CSCR. The patient also had a history of unresolved strabismic amblyopia in her right eye. The patient's CSCR was managed with one injection of intravitreal aflibercept (2 mg/0.05 mL). One month following treatment, her visual acuity improved to 20/20 OS, and the serous retinal detachment had resolved. Ten months following treatment, an examination revealed a sustained improvement, with a visual acuity of 20/20 OS. Concomitantly, the patient's amblyopic eye revealed an improved visual acuity of 20/20. Our case suggests that some cases of secondary CSCR may respond to treatment with intravitreal aflibercept. This case also suggests that the CSCR imposed a unique form of occlusion therapy that helped improve the amblyopia of the contralateral eye in this adult patient.

We report a case of cystoid macular edema (CME) secondary to syphilitic uveitis that was successfully treated with pars plana vitrectomy with internal limiting membrane peeling. A 37-year-old male with a history of HIV developed a CME secondary to syphilitic panuveitis. His uveitis resolved following treatment with intravenous penicillin, yet his CME persisted and was refractory to four posterior sub-tenon triamcinolone acetonide injections. A pars plana vitrectomy with internal limiting membrane peeling was performed, resulting in lasting resolution of the CME and the improvement of his visual acuity at the twomonth follow-up visit. Pars plana vitrectomy with internal limiting membrane peeling may be a viable alternative for the treatment of CME in patients with syphilitic uveitis. In particular, it may serve as a viable alternative for the treatment of CME in patients with a history of infectious uveitis or other comorbidities, such as HIV infection.