IntroductionOcular involvement in leukemia may occur because of direct leukemic infiltration or because of secondary ophthalmic involvement as a result of abnormalities related to blood like anemia, thrombocytopenia, and leukocytosis. In some patients with leukemia, ophthalmic signs can precede the systemic features and can help in early diagnosis of systemic leukemia. Due to the scarcity of data on this topic from Pakistan, we conducted this study to determine the pattern of ocular involvement in patients with leukemia presenting in our settings.MethodsThis cross-sectional study was conducted in a tertiary care hospital of Pakistan over a period of one year. The study comprised of both newly diagnosed and follow-up patients of acute leukemia of age more than 15 years. Patients underwent detailed ophthalmic anterior and dilated posterior segment examination. Patient’s demographic profile, type of leukemia, chemotherapy status, and hematologic findings were also documented.ResultsThere were 97 leukemic patients in the study with 55 (56.7%) males and 42 (43.3%) females. Various ophthalmic manifestations were observed in 47 (48.45%) patients. Forty-two (43.3%) were diagnosed cases with acute lymphocytic leukemia (ALL) and 55 (56.7%) suffered from acute myelogenous leukemia (AML). Ophthalmic manifestations were present in 29 patients of AML (52.7%) and 18 patients of ALL (42.85%). Ocular involvement was significantly more common in newly diagnosed (n=32) as compared with follow-up patients (n=15) (p-value = 0.032). Posterior segment (n=48) was the most common site of ocular involvement (n=48, 49.5%) with retinal hemorrhages seen in 40 patients (41.2%) and papilloedema in seven cases (7.2%). Thirty-three (70.2%) out of 47 patients with ophthalmic manifestations were asymptomatic while 14 (29.8%) had ocular symptoms at the time of initial presentation.ConclusionOphthalmic manifestations were present in about half of the patients with leukemia. Ocular involvement was more prevalent in newly diagnosed cases and in patients with AML.

Management of glaucoma associated with SWS is multi-dimensional and needs both medical and surgical interventions for better control. The treatment should be devised on case to case basis depending upon the intraocular pressure, stage of the disease, and type of glaucoma.

Objective To identify disease-causing mutations in two consanguineous Pakistani families with fundus albipunctatus. Methods Affected individuals in both families underwent a thorough clinical examination including funduscopy and electroretinography. Blood samples were collected from all participating members and genomic DNA was extracted. Exclusion analysis was completed with microsatellite short tandem repeat markers that span all reported loci for fundus albipunctatus. Two-point logarithm of odds (LOD) scores were calculated, and coding exons and exon–intron boundaries of RLBP1 were sequenced bi-directionally. Results The ophthalmic examination of affected patients in both families was consistent with fundus albipunctatus. The alleles of markers on chromosome 15q flanking RLBP1 segregated with the disease phenotype in both families and linkage was further confirmed by two-point LOD scores. Bi-directional sequencing of RLBP1 identified a nonsense mutation (R156X) and a missense mutation (G116R) that segregated with the disease phenotype in their respective families. Conclusions These results strongly suggest that mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.