ABSTRACT
Pigmented perivenous chorioretinal atrophy is a rare condition, the etiology of which is still unknown, with approximately one hundred cases described in the literature. The lesion is characterized by chorioretinal atrophy with retinal pigment in a bony spicule distribution along the retinal veins. These pigmentations are small round lesions, which are in a pattern similar to the appearance of osteoblastic cells. This condition is often bilateral and asymmetric. It appears to be sporadic most of the time. The atrophic areas do not affect the macula; therefore visual acuity is not disturbed. Optical coherence tomography shows an alteration of the external layers of the perivenous retina. Fluorescein angiography reveals a hyperfluorescence of the perivenous retina. Visual field measurement reveals a paracentral scotoma. This condition appears to be localized and self-limited, yet our knowledge is still limited because of the small number of cases reported. The present work reports two cases of pigmented perivenous chorioretinal atrophy in children. Our descriptions correspond to the data reported in the literature.
Subject(s)
Eye Diseases, Hereditary/diagnosis , Retinal Degeneration/diagnosis , Adolescent , Female , Fluorescein Angiography , Humans , Rare Diseases , Vision Disorders/etiologyABSTRACT
INTRODUCTION: Iris mammillations are congenital abnormalities characterized by vitiliform protuberances regularly spaced on the surface of a velvety iris. They can be either isolated or associated with melanocytosis involving iris, sclera or periocular tissues, resulting in a risk for uveal melanoma. They can be complicated by ocular hypertension. We report three cases of iris mammillations in three children. CASES REPORT: For each patient, age, circumstances of revelation, anterior and posterior segment examination, intraocular pressure, associated anomalies, and progression were noted. Patient no. 1: In a 13-month-old boy examined for a squint, bilateral iris mammillations were fortuitously discovered. Intraocular pressure remained normal over 22 months of follow-up. Patient no. 2: In an eight-year-old boy, bilateral iris mammillations with papillary excavation were fortuitously discovered. Intraocular pressure was normal and the excavation did not change over 20 months of follow-up. Patient no. 3: A five-year-old boy was examined for a scleral pigmentation in the right eye. The examination found unilateral iris mammillations and ipsilateral ocular melanocytosis. Intraocular pressure and fundus were normal and remained normal over 13 months of follow-up. DISCUSSION: and conclusion: Iris mammillations are congenital abnormalities, generally unilateral, sometimes hereditary. The differential diagnosis includes Lisch nodules of neurofibromatosis and iris melanoma. The etiology of iris mammillations is unknown; these lesions can be complicated by ocular hypertony and, in case of associated melanocytosis of the iris, sclera or periocular tissues, by uveal melanoma. These potential complications warrant a regular clinical follow-up.
Subject(s)
Iris Diseases/pathology , Child , Child, Preschool , Humans , Infant , Male , Melanosis/pathology , Retrospective StudiesABSTRACT
We evaluated 36 eyes in 23 infants between one and eleven months old who had primary posterior chamber intraocular lens implantation for congenital cataracts. All eyes had a capsulorhexis of anterior and posterior capsulae and anterior vitrectomy. In order to obtain an emmetropia at age 5 years, we chose a 35% undercorrection of lens power for infants less than six months old, and 25% for infants between seven and eleven months old. The average follow-up was 15.3 months. Nine eyes developed posterior synechiae and eight developed a posterior opacification. The average postoperative refraction was +5.81 dioptries at one month, +4.56 at four months, +1.5, at one year, and +0.19 at two years. There was a marked subjective visual improvement in 34 eyes.
Subject(s)
Cataract/congenital , Lens Implantation, Intraocular , Follow-Up Studies , Humans , InfantABSTRACT
Humans who have inherited the class I major histocompatibility allele HLA-A29 have a markedly increased relative risk of developing the eye disease termed birdshot chorioretinopathy. This disease affecting adults is characterized by symmetrically scattered, small, cream-colored spots in the fundus associated with retinal vasculopathy and inflammatory signs causing damage to the ocular structures, leading regularly to visual loss. To investigate the role of HLA-A29 in this disease, we introduced the HLA-A29 gene into mice. Aging HLA-A29 transgenic mice spontaneously developed retinopathy, showing a striking resemblance to the HLA-A29-associated chorioretinopathy. These results strongly suggest that HLA-A29 is involved in the pathogenesis of this disease. Elucidation of the role of HLA-A29 should be assisted by this transgenic model.
Subject(s)
HLA-A Antigens/physiology , Retinal Diseases/immunology , Animals , Flow Cytometry , HLA-A Antigens/genetics , Mice , Mice, Inbred BALB C , Mice, Transgenic , Retinal Diseases/pathologyABSTRACT
Birdshot retinochoroidopathy is strongly associated with HLA-A29. This antigen can be divided into two subtypes, A29.1 and A29.2, using an immunoprecipitation method succeeded by one-dimensional electrofocusing gel electrophoresis. We reviewed the HLA typings of 58 white French patients who had birdshot retinochoroidopathy. Of these 58 subjects, 54 (93.1%) had HLA-A29 with a relative risk of 157.30. We further analyzed the HLA-A29 subtypings of 33 patients with birdshot retinochoroidopathy. Evaluation of the results showed that HLA-A29.2 subtype was present in all patients (100%). We concluded that the absence of HLA-A29.1 subtype is statistically significant (P less than .01) in this study of HLA-A29 subtyping.
Subject(s)
Chorioretinitis/immunology , HLA-A Antigens/analysis , Adolescent , Adult , Aged , Electrophoresis, Polyacrylamide Gel , Female , Genetic Linkage/immunology , Histocompatibility Testing , Humans , Immunophenotyping , Male , Middle Aged , Risk FactorsABSTRACT
A drainage of aqueous humor from the anterior chamber to the subtenonian space using a tube and a scleral implant was performed in 22 eyes, previously unsuccessfully operated on for glaucoma. The results after a follow up of 12 to 36 months were good, specially in cases with undissectable conjunctiva (a 73% rate of success). The small incidence of serious complications incites us to use this technique earlier in the surgical treatment of uncontrolled ocular hypertension.
Subject(s)
Anterior Chamber , Drainage/instrumentation , Eye , Ligaments , Ocular Hypertension/surgery , Adolescent , Adult , Aged , Child , Drainage/adverse effects , Humans , Intraocular Pressure , Intubation/adverse effects , Intubation/instrumentation , Middle Aged , Ocular Hypertension/physiopathologyABSTRACT
The fallen fragment sign is a prominent radiologic feature in a minority of cases of unicameral bone cyst (20% in this series). This sign is always associated with pathologic fracture. Intramedullary fracture fragments may be single or multiple and may or may not be entirely dislodged from overlying periosteum. The finding appears limited to unicameral bone cysts in patients with open physes. When present, the fallen fragment is a pathognomonic finding as it defines the interior of the cyst as nonsolid. This is particularly helpful in cases where absence of the cyst wall secondary to fracture can simulate an intramedullary malignancy with cortical erosion.
