Choroidal ruptures after adjuvant intravitreal injection of bevacizumab for aggressive posterior retinopathy of prematurity.

In recent times, laser treatment combined with intravitreal bevacizumab (Avastin) has been used rarely as early investigations to treat patients with aggressive posterior retinopathy of prematurity (ROP). We describe choroidal ruptures that were documented at 10 weeks after this combined treatment in a preterm infant born at 28 weeks gestation with a birth weight of 1190 g. Aggressive posterior ROP was diagnosed at the age of 6 weeks. Initial treatment included bilateral laser ablation, followed immediately by intravitreal bevacizumab (IVB, 0.75 mg) in the right eye. On day 5, a remarkable regression of plus sign and fibrovascular proliferation was noted only in the right eye. At this point, additional laser treatment combined with IVB was given in the left eye, which dramatically resolved plus disease and neovascularization. At 10 weeks after IVB in the left eye, two sites of choroidal ruptures were revealed along the posterior edges of laser scars. There was no evidence of choroidal neovascularization associated with the choroidal ruptures. Choroidal rupture may occur shortly after laser ablation plus IVB treatment for aggressive posterior ROP. This occurrence requires recognition to determine whether it is actually related to the treatment. Long-term follow-up is important for understanding the nature and progression of this potentially serious complication.

Value of electrodiagnostic assessment in nonsyndromic microcephaly.

PURPOSE: To evaluate the value of electroretinogram (ERG) and visual evoked potentials (VEP) in children with nonsyndromic microcephaly. METHODS: In this observational case series, six children with nonsyndromic microcephaly aged 8.5 to 158 months were examined. Main outcome measures included the amplitude of the flash ERG (photopic, flickering, scotopic, and dark-adapted responses), the amplitude and latency of the VEP (flash or pattern-reversal stimulus), visual acuity, slit-lamp biomicroscopy, and indirect ophthalmoscopy. RESULTS: Three children demonstrated normal fundus appearances, ERG, and VEP responses: two in this group demonstrated poor vision and brain computed tomography in the third showed schizencephaly. The remaining three children demonstrated abnormal ERG with predominant reduction in photopic amplitudes. Retinal pigmentary granularities were detected in two children in this group, one of whom has poor vision, generalized brain atrophy, and 40% reduction in VEP amplitudes. CONCLUSIONS: Abnormal ERG is not uncommon among children with nonsyndromic microcephaly. Although cone photoreceptors are affected more than rods, this does not anticipate poor vision. It appears that defects in posterior visual pathway or developmental malformations of the brain should be responsible for poor visual function in nonsyndromic microcephaly.

Uveitis in a child: masquerade syndrome revisit.

We present a case of relapsing acute lymphoblastic leukemia (ALL) in the anterior chamber, uveitis masquerade syndrome, which was confirmed by anterior chamber paracentesis and aqueous fluid cytology. Three months previously, the patient developed anterior uveitis without hematologic relapse. The uveitis responded well to topical steroid. After anterior chamber paracentesis, bone marrow relapse was detected. High doses of chemotherapy were prescribed. Ocular radiation was planned but the patient developed septicemia and expired. In our opinion, paracentesis should be performed without delay when uveitis develops in ALL, regardless of systemic relapse. Ocular manifestation may be the only sign of leukemic relapse or may present several months prior to systemic relapse.

Microcephaly with chorioretinal degeneration.

PURPOSE: To describe the ophthalmologic findings and electroretinograms in patients with microcephaly and chorioretinal degeneration. METHODS: We reviewed the hospital records of 20 patients with microcephaly that was not part of a recognizable syndrome prior to initial referral to the institutional consultative practice of one of the authors (RGW). Twelve patients, all from separate families, were diagnosed as having microcephaly with chorioretinopathy. Ten of these patients had ISCEV-standard electroretinograms (ERG). RESULTS: No family history of microcephaly or retinal degeneration was found in any of our patients. Three patients had another family member with mental retardation. Three of the 12 were compatible with the autosomal dominant form of microcephaly with chorioretinopathy (MIM 156590), possibly as a new mutation. Eight patients, who had fundus findings of retinitis pigmentosa, were similar to the autosomal recessive form of microcephaly with chorioretinal degeneration (MIM 251270). The ERGs were moderately to severely subnormal for responses of both rods and cones. The retinal findings varied from no pigmentary changes, pigment clumping and bone spicules, pigmentary granularity, bull's eye maculopathy, choroidal and retinal atrophy, to lacunar depigmentation. Mental retardation was mild to profound. The abnormal findings from MRI/ CT brain scans (8 patients) were cerebellar atrophy (2), agenesis of cerebellar vermis (1), cortical atrophy (1), and pachygyria (1). Dysmorphic features were present in most patients. Chromosome studies were normal, except for one patient with ring chromosome 14. CONCLUSIONS: Although the patients reviewed in this study represent a heterogeneous group of disorders, ocular abnormalities, especially retinal degeneration, are frequent among patients with microcephaly.

Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome.

We evaluate the ophthalmologic findings in 8 children with RSH/Smith-Lemli-Opitz syndrome (SLOS) and document abnormal concentrations of cholesterol and cholesterol precursors in the ocular tissues in a case of SLOS. The most common ophthalmologic finding was blepharoptosis, which was found in 6 of 8 patients, with the severity ranging from mild to moderate. None of the patients in the present study demonstrated cataracts; none had amblyopia from blepharoptosis. One patient had a right hypertropia with overaction of the inferior oblique muscle. This patient also had optic atrophy and a second patient had bilateral optic nerve hypoplasia. The importance of these findings to the visual function remains to be defined. Sterol analysis from ocular tissues of an aborted fetus with SLOS showed increased 7- and 8-dehydrocholesterol and a low cholesterol concentration in the retinal pigment epithelium, lens, cornea, and sclera. Routine ophthalmologic examination is indicated in SLOS because of the high incidence of abnormalities, most likely due to the abnormal synthesis of cholesterol and cholesterol precursors in the ocular tissues of these patients, as evidenced by sterol analysis of the ocular tissues in a case of SLOS.