Localization of laminin to retinal vessels of the rat and mouse using whole mounts

Using a whole mount procedure in adult and neonatal mice and adult rats, we have developed an immunohistochemical method for the localization of laminin-like immunoreactivity (LLIR) to the retinal vessels. LLIR was localized to the vascular basement membrane, permitting a clear three-dimensional view of the retinal vasculature. Positive stain was seen in the inner limiting membrane, in retracted capillaries, encasing pericytes, and in a banding pattern on retinal arterioles. The major findings with the whole mount preparations were confirmed using paraffin-embedded material, with the additional observation of LLIR in the lens capsule. In whole mounts of retinas from neonatal mice, LLIR was present from the earliest stages of capillary growth, indicating that laminin is likely to be secreted by endothelial cells during retinal angiogenesis. LLIR within the retinal nerve fiber layer does not precede capillary ingrowth, so no evidence was found that laminin acts as a tracker signal for retinal angiogenesis

Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3

Purpose: A recurrent 17 bp duplication (c.657ins17bp) of a segment of the paired-like homeodomain transcription factor 3 (PITX3) gene on human chromosome 10 has been reported in seven families with autosomal dominant posterior polar cataracts with or without anterior segment mesenchymal dysgenesis (ASMD). ASMD can include Peters anomaly with corneal clouding, iridolenticular corneal adhesions, displaced Schwalbe's line, and cataract as described previously in a large Australian family. This study reports the examination of PITX3 in this Australian family. Methods: Clinical examinations of the proband and her relatives were performed as part of routine follow up. A polymerase chain reaction (PCR) based test for the duplication in PITX3 was developed, and DNA from 21 members of the proband's family was tested. Results: All clinically affected members of the family had the same 17 bp duplication of PITX3. There was no difference in the size of the duplication between the severely affected individuals and the more mildly affected individuals. Prenatal diagnosis was performed for two offspring of one affected person. In the first pregnancy, the fetus was shown to carry the duplication while in the second pregnancy, the fetus was shown to be homozygous for the normal allele. Conclusions: The results show that in some individuals within one family, duplication of this segment of PITX3 can result in severe symptoms leading to functional blindness while in other individuals in the same family or in other families, the same duplication leads to treatable cataract with minimal visual impairment

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. Objectives: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. Design, Setting, and Participants: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. Main Outcomes and Measures: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. Results: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68]). Conclusions and Relevance: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs

Partial Jensen's procedure for the treatment of myopic strabismus fixus

Myopic strabismus fixus (MSF) is a rare strabismus entity of uncertain etiology. The most recent explanation of etiology was provided by Yokoyama et al,(1) who noted that the enlarged globe in high myopia herniates superotemporally and retroequatorially through the muscle cone. In a typical case, the eye is fixed in depression and adduction. We report the use of a partial Jensen's procedure (superior arm only) for the treatment of MSF

Augmented superior rectus muscle transposition for the treatment of strabismus in Möbius syndrome

Möbius syndrome is a rare congenital disorder characterized by bilateral facial nerve palsy and abducens nerve palsy. It is associated with a wide spectrum of systemic and ocular manifestations; esotropia is commonly the reason for ophthalmic referral. There are few published studies in the literature on strabismus surgery in Möbius syndrome. An augmented vertical rectus muscle transposition in which lateral fixation sutures are used on the transposed vertical rectus muscles (Foster augmentation) has been used to correct esotropia caused by severe sixth nerve palsy and type 1 Duane syndrome. We describe the surgical outcome after treating moderate- to large-angle esotropia in 3 patients with Möbius syndrome with the augmented vertical rectus muscle transposition. Copyrigh

Corticosteroid-induced glaucoma in a child after a scleral reinforcement procedure

Corticoteroid-induced glaucoma can result from either topical or systemic corticosteroid use. Compared with adults, the corticosteroid response in children is less well known. The case is reported of a child who developed glaucoma after receiving topical corticosteroids following a scleral re-inforcement procedure. The raised intraocular pressure was controlled after cessation of the corticosteroids and with the use of antiglaucoma therapy. As many forms of cortico-steroids are widely used, children on corticosteroids should have regular intraocular pressure measurements as part of their management