BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11 which disrupt EG5 protein function, impacting the development and maintenance of retinal and lymphatic structures due to its expression in the retinal photoreceptor cilia. The primary ocular finding in MCLMR is chorioretinopathy. Additional features can include microphthalmia, angle-closure glaucoma, persistent hyperplastic primary vitreous, cataract, pseudo-coloboma, persistent hyaloid artery, and myopic or hypermetropic astigmatism. The appearance of the chorioretinal lesions as white to pinkish, round, non-elevated atrophic areas devoid of blood vessels resembles the lacunae in Aicardy syndrome. Due to the lack of systematic description of the lesions and significant phenotypical variability, there is an impending need for a detailed report of each case.
METHODS: A child with microcephaly detected in the third trimester of gestation began her following in the ophthalmology department due to a non-visually significant cataract. Shortly after, she developed nystagmus and large-angle alternating esotropia with cross-fixation. Her fundus initially showed a pallid optic disc and pigmentary changes, developing thereafter retinal lacunae and a retinal fold. Her differential diagnosis accompanied the dynamic changes in her fundus, which included congenital infections, Leber´s Congenital Amaurosis and Aicardy syndrome. At 19 months old, genetic testing identified a heterozygous mutation (c.1159 C > T, p.Arg387*) in the KIF11 gene. The patient underwent bilateral medial rectus muscle recession surgery at 2 years old for persistent esotropia, with significant improvement. Refraction revealed a hyperopic astigmatism in both eyes (+ 0.25 -2.50 × 180 OD and + 0.75 -2.00 × 170 OS). She continues to require right eye patching for 2 hours daily.
CONCLUSIONS: This case report expands the phenotypic spectrum of MCLMR by demonstrating a unique combination of retinal features which sheds new light on differential diagnosis from Aicardy syndrome. Our findings emphasize the significant phenotypic variability associated with MCLMR, particularly regarding ocular involvement. This underscores the importance of detailed clinical evaluation and comprehensive reporting of cases to improve our understanding of the disease spectrum and genotype-phenotype correlations.

BACKGROUND: Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disorder characterized by impaired phagocytic function, leading to recurrent infections and granuloma formation. Genetic mutations in NADPH oxidase complex components, such as CYBB, NCF1, NCF2, and CYBA genes, contribute to the pathogenesis. This case report explores the possible ocular and hematologic complications associated with CGD.
METHODS: A 6-year-old girl with a history of vitrectomy, membranotomy, and laser therapy due to congenital blindness (diagnosed with chorioretinopathy) was referred to the hospital with generalized ecchymosis and thrombocytopenia. Diagnostic workup initially suggested chronic immune thrombocytopenic purpura (ITP). Subsequent admissions revealed necrotic wounds, urinary tract infections, and recurrent thrombocytopenia. Suspecting immunodeficiency, tests for CGD, Nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) were performed. She had a low DHR (6.7), and her NBT test was negative (0.0%). Her whole exome sequencing results confirmed autosomal recessive CGD with a homozygous NCF1 mutation.
CONCLUSIONS: This case underscores the diverse clinical manifestations of CGD, including recurrent thrombocytopenia and possible early-onset ocular involvement. The diagnostic challenges highlight the importance of a multidisciplinary approach involving hematologists, immunologists, and ophthalmologists for accurate diagnosis and management. The rare coexistence of ITP in CGD emphasizes the intricate link between immunodeficiency and autoimmunity, requiring tailored therapeutic strategies.

UNASSIGNED: To report two patients with herpetic zoster panuveitis and chorioretinopathy with choroidal hypopigmentation.
UNASSIGNED: Retrospective chart review of two patients.
UNASSIGNED: We report a series of two patients with a history of HZO with orbital inflammation and panuveitis, who developed patchy choroidal depigmentation consistent with a choroidopathy. The lesions were extensive and involved the posterior pole and mid-periphery in both cases. Both cases demonstrated scattered areas of ellipsoid zone loss, and fluorescein angiography showed corresponding late hyperfluorescence. OCTA in one case demonstrated flow voids at the level of choriocapillaris.
UNASSIGNED: Our series suggests that herpetic chorioretinopathy may be a relatively benign process that presents late and may involve large areas of the posterior choroid.

UNASSIGNED: Microcephaly and chorioretinopathy (MCCRP) is a rare autosomal recessive (AR) disorder characterized by microcephaly, developmental delay, chorioretinopathy, and visual impairment. We characterized the long-term phenotype of an additional patient with MCCRP associated with TUBCGP4 pathogenic variants and analysed previously reported cases in the literature.
UNASSIGNED: Analysis of clinical and genetic data of a patient with TUBGCP4-related MCCRP followed for more than 19 years and literature search for previously reported patients with TUBCGP4 variants using PubMed, Scopus, and Google Scholar.
UNASSIGNED: Molecular diagnosis using exome sequencing demonstrated two TUBCGP4 variants in trans: c.1669C>T (p.Arg557*) and c.1746 G>T (p.Leu582=). Clinical characteristics included microcephaly, microphthalmia, punched-out chorioretinal lesions, vision impairment, nystagmus, Tetralogy of Fallot and neurodevelopmental delay. Another six previously reported cases of TUBCGP4-related MCCRP were identified. Their clinical and genetic characteristics are compared.
UNASSIGNED: TUBCGP4-related microcephaly and chorioretinopathy, is a rare autosomal recessive neuro-ophthalmic disorder. Clinical characteristics in our proband have remained stable for two decades. The pathophysiology of this syndrome is not yet fully understood.

OBJECTIVE: To evaluate the clinical and functional sequelae of patients with a diagnosis of resolved CSC, through macular OCT, contrast sensitivity test, visual field 10-2 and Farnsworth D-15 color test.
METHODS: 27 eyes of 26 individuals with CSC resolved by macular OCT were included and evaluated; the patients underwent a contrast sensitivity test with the Optec 6500 equipment, a 10-2 visual field with an Octopus 900 Haag-Streit, and a Farnsworth D-15 color test.
RESULTS: Sequelae were observed in 20 eyes (74.1%) by macular OCT and in 21 (77.8%) in contrast sensitivity, predominantly type 2 defect. Also 27 (100%) had a visual field 10-2 altered corresponding to reduced foveal sensitivity, 11 eyes (40.7%) corresponded to central and paracentral scotomas. The color test showed alteration in 11 (40.7%) of the total eyes evaluated, finding tritanomaly in 9 of them (81.8%). No significant differences were observed in the studies between observation group vs the treatment group.
CONCLUSIONS: CSC can leave sequelae in the visual quality of patients despite treatment in the acute phase. Visual acuity before and after treatment in the intervention group had no significant difference.

UNASSIGNED: Multifocal choroiditis (MFC) is described as a chronic bilateral progressive inflammatory outer chorioretinopathy, that usually affects healthy myopic Caucasian women with no associated systemic/ocular diseases. This patient had a severe acute presentation of aggressive multifocal choroiditis that was treated with systemic steroids.
UNASSIGNED: This is a retrospective case report of a 30-year-old, white, European, female who was 10 weeks pregnant. She had bilateral severe vision loss and rapidly progressive rash and arthritis. The patient was extensively investigated for inflammatory and infectious etiologies by a multidisciplinary team including rheumatology and obstetrics and gynecology. Antistreptolysin levels were moderately raised. Serial retinal optical coherence tomography scans were performed and were critical for assessing disease activity and demonstrating the extent of retinal and choroidal lesions.
UNASSIGNED: This was a challenging case as the patient was pregnant. Nevertheless, a multidisciplinary team, opted for treatment with systemic steroids which then lead to recovery of her vision.

UNASSIGNED: To describe the findings of long-term follow-up of a case of amyloidosis-associated chorioretinopathy by multimodal imagings, including optical coherence tomography (OCT).
UNASSIGNED: A 47-year-old woman who had been diagnosed as having systemic amyloidosis was found to have a best corrected visual acuity of 20/13 in both eyes at the age of 41, which subsequently decreased to 20/100 in the left eye and 20/20 in the right eye at age 47. Visual field examination demonstrated worsening of the central scotoma during the follow-up period. Funduscopic examination revealed bilateral white deposits along the choroidal vessels, which became more pronounced over time, along with diffuse pigmentary changes. The fluorescein angiography and indocyanine green angiography findings were consistent not only with atrophic lesions, but also with amyloid deposition (i.e., staining of the vessels).At the baseline, macula OCT revealed a thick hyporeflective band at the choriocapillaris, however, at the last follow-up, it revealed an absent ellipsoid zone, and bilateral progressive retinal pigment epithelium irregularities in both eyes.
UNASSIGNED: Patients diagnosed as having amyloidosis-related chorioretinopathy may have maintained visual function at the first detection of retinal amyloid deposition, and a number of years may elapse before the patient manifests visual deterioration.

OBJECTIVE: To review a case of bilateral diffuse chorioretinopathy as a presenting sign of juvenile dermatomyositis (JDM) and review the literature regarding retinal manifestations associated with this disease.
METHODS: Review of case record and literature regarding retinal manifestations related to juvenile dermatomyositis.
RESULTS: A 13-year-old girl presented with bilateral diffuse chorioretinopathy as the presenting sign of juvenile dermatomyositis. A review of the literature suggests that retinopathy associated with JDM is a rare finding that is symptomatic to patients and often responds to systemic treatment of juvenile dermatomyositis. This is also the first documented case of paracentral acute middle maculopathy in the setting of juvenile dermatomyositis.
CONCLUSIONS: Chorioretinopathy is a rare finding in juvenile dermatomyositis. While all patients with JDM likely do not warrant screening ophthalmologic examinations, any patient who has visual symptoms should have a careful dilated examination to evaluate for retinopathy or steroid-induced cataracts.

METHODS: A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, was referred for an ophthalmological examination. He had a history of acute metabolic crises precipitated by intercurrent infections,as well as rhabdomyolysis. The fundoscopic examination revealed a peripapillary chorioretinal atrophy and a diffuse granular appearance of the macular retinal pigment epithelium. Best corrected visual acuity was 6/6 in both eyes, and he had a normal electroretinography test.
CONCLUSIONS: We perform a review of the literature and recent findings in relation to this disease through the description of a clinical case in order to improve the knowledge of this uncommon disorder.

New targeted treatments are being used for patients affected by certain types of cancers with specific gene dysregulation. These new treatments transform the prognosis for the patients but the exact way in which they work is often incompletely known. This can prove to be problematic with regard to potential side effects. Ophthalmologic side effects are particularly difficult to detect in animal models. MEK inhibitors are among these new targeted treatments for which the indications are broad. One of the reported side effects of MEK inhibitors is the appearance of atypical multifocal serous chorioretinopathies which, when present, occur rapidly after starting the treatment and disappear soon after stopping it. We report two documented cases of serous chorioretinopathies secondary to the use of selumetinib, an MEK inhibitor. Both patients were followed for several months after initiating the treatment, using angiography, OCT, and filtered photographs. Only a very few cases have been reported, and the detailed description of two clear-cut cases and their management, as well as a review of the current literature, seems a good way to approach the management of this complication.