We used the chemical mutagen, N-ethyl-N-nitrosourea, to induce random point mutations in the germline of the mouse strain C57BL/6 in order to generate models of retinal diseases. 1163 mutagenised first generation mice produced using this approach were examined for eye abnormalities. Approximately one-third (412) presented with some form of ocular abnormality. Most changes were unilateral and co...

Ocular pigmentation in white cats with blue and yellow eyes and in Siamese cats was examined ophthalmoscopically and histologically. Yellow-eyed white cats had entirely normal ocular pigmentation. Blue eyes of white cats had normal pigmentation of the iridial and retinal pigment epithelia but no stromal pigmentation of the iris or choroid. This deficit is apparently due to the absence of stroma...

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle...

Ten infants with macular hemorrhage in the neonatal period were tested to assess visual acuity, stereopsis, and ocular position. Contrast sensitivity was examined in three of them. The duration of hemorrhages was 1 month in four patients, 1.5 months in one patient, 2 months in two patients, 3 months in one patient, 4 months in one patient (corrected gestational 3 months), and 5 months in one pa...

Mitochondrial dysfunction commonly presents with ocular findings as a part of a systemic disorder. These ophthalmic manifestations can be the first sign of a mitochondrial abnormality, which highlights the key role of a comprehensive ophthalmic assessment. On the other hand, a number of visually disabling genetic and acquired eye diseases with no curative treatment show abnormal mitochondrial f...

Introduction. Laurence-Moon-Biedl (LMB) syndrome is a rare autosomal-recessive ciliopathy with manifold symptomatology. The cardinal clinical features include retinitis pigmentosa, obesity, intellectual delay, polydactyly/syndactyly, and hypogenitalism. In this paper, the authors report on three siblings with Laurence-Moon-Biedl syndrome associated with a probable pseudocycloid form of congenit...

In clinical practice, photophobia resulting from persistent mydriasis may be associated with dysfunction of ocular parasympathetic nerves or primary iris lesions. We encountered a 5-year-old Miniature Dachshund and a 7-year-old Shih Tzu with mydriasis, abnormal pupillary light reflexes, and photophobia. Except for sustained mydriasis and photophobia, no abnormalities were detected on general ph...

Case Report A boy aged 10 years was brought to the children's out-patient department of the Patna Medical College Hospital on account of his abnormal flabbiness and mental deficiency. In addition he had not been able to see very well for some time, particularly at night. He was the third child of his parents, who were healthy and not consanguineous. The family, traced to four generations on the...

Microphthalmos is an ocular abnormality of the eye in which all tissues are significantly smaller than normal. It is subdivided into two categories as simple and complex microphthalmos. The complex type is associated with several ocular abnormalities (1). Posterior microphthalmos is another subtype of microphthalmos which is characterized by normal or near normal anterior segment dimensions, ye...

PURPOSE We identified the genomic signature of ocular adnexal lymphoproliferative disorders (LPDs), especially ocular adnexal mucosa-associated lymphoid tissue (MALT) lymphoma, IgG4-related ophthalmic disease (IgG4-ROD), reactive lymphoid hyperplasia (RLH), and diffuse large B-cell lymphoma (DLBCL). METHODS We included 52 subjects with ocular adnexal LPDs (13 orbital MALT lymphomas, 16 conjun...