The prevalence of primary open angle glaucoma in patients with retinitis pigmentosa ranges from 2-12%. To the best of our knowledge the prevalence of primary angle closure glaucoma in retinitis pigmentosa patients has not been reported. This study was conducted to determine the prevalence of primary angle closure glaucoma in patients with retinitis pigmentosa and the relationship between the two. We reviewed 538 retinitis pigmentosa patients' charts seen between 1974-1987, in the Ocular Genetic Clinic in the Hospital of Sick Children, Toronto, Canada. The prevalence of primary angle closure glaucoma in our retinitis pigmentosa patients over 40 was 1.03%. We also reviewed three patients with primary angle closure glaucoma and retinitis pigmentosa. One patient had typical bilateral retinitis pigmentosa, one patient had bilateral sector retinitis pigmentosa, and one patient had unilateral retinitis pigmentosa and primary angle closure glaucoma in the same eye. Our data indicate that there is a strong association between retinitis pigmentosa and primary angle closure glaucoma.
BackgroundCYP1B1 is the most commonly mutated gene in primary congenital glaucoma (PCG). This study was undertaken to identify mutations in CYP1B1 in the Western region of Saudi Arabia.MethodsBlood of patients who had typical findings of PCG, were screened by direct sequencing of all coding exons and splice junctions of the CYP1B1 gene.Results34 patients were studied; 18 patients belonged to 8 families, and 16 patients were non-familial, isolated PCG. Consanguinity was found in 27/34 (79.4%) of cases. All patients were diagnosed to have bilateral PCG at birth except one child, who had glaucoma in the right eye. More males (61.8%) were affected than females (38.2%). 79.4% (27/34) of patients were solved with pathogenic mutations and 20.6% (7/34) remained unsolved. Of the solved ones, 22.2% (6/27) of patients carry a pathogenic allele on one allele while the other allele remained yet to be determined. Direct sequencing of exon 2 revealed two pathogenic variants (p.Gly61Glu, p.Glu229Lys). P.Gly61Glu substitution was found both homozygously in 63% (17/27) of cases, and heterozygously in one patient. P.Glu229Lys variant was found heterozygous in 3.7% (1/27) of cases. One pathogenic variant (p.Arg469Trp) was found in exon 3, and is present homozygously in 14.8% (4/27) of cases while four patients have this variant heterozygously. All mutations were reported previously in the Saudi population, except p.Glu229Lys. Severe cases were associated with p.Gly61Glu, and p.Arg469Trp in 50% and 30% of ten patients respectively.ConclusionsThis study confirms that CYP1B1 mutations are the most frequent cause of PCG in the Saudi population, with p.Gly61Glu being the major disease-associated mutation. P.Glu229Lys is a newly discovered mutation in our PCG patients. Patient lacking mutation in CYP1B1 gene seems likely, to have another genetic loci involved in the pathogenesis of the disease, and need further study. Genetic studies of recessive diseases such as PCG is important in consanguineous populations, since it will increase awareness and allows genetic counseling to be offered to patients and their relatives. This will not only reduce the disease to be inherited to future generations, but will also reduce the disease burden in the community.
To the best of our knowledge, ocular leukemia has not been reported in Saudi Arabia. Seventy-two leukemia patients were seen in King Abdulaziz University Hospital in Jeddah over the last 10 years. Thirty-one of those patients had an ocular examination. Seventeen of these were found to have ocular abnormalities related to leukemia. Ten had acute lymphoblastic leukemia, four had acute myeloid leukemia and three had chronic myeloid leukemia. The retina and vitreous were involved in 12 of the ocular relapses, the anterior segment leukemic infiltrate in nine, glaucoma in five, opportunistic infection in four, cranial nerve palsies in three, proptosis and hypotony in two. Conjunctival hemorrhage, choroidal infiltrate and cataract were present in one relapse each. The optic nerve was involved in nine relapses, which is a serious condition that requires immediate intervention to save the patient's sight. Computed tomography (CT) scan of the brain and orbit was useful in differentiating between optic nerve infiltrate and papilledema. Most ocular relapses responded well to chemotherapy except relapses with optic nerve and anterior segment infiltrate, which required irradiation to save the patient's sight and prevent further relapses. In conclusion, the presented data have shown that ocular leukemia is not rare and emphasizes the importance of early ophthalmologic examination and radiation.
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