Typical ocular findings in a patient with multiple endocrine neoplasia type 2b syndrome

BACKGROUND: Multiple endocrine neoplasia (MEN) type 2b syndrome is accompanied by typical ocular findings; however, the disease is often only diagnosed at an advanced stage by symptoms of C-cell carcinoma or pheochromocytoma and is then fatal in most cases. Therefore, the importance of ophthalmic assessment in making the diagnosis has to be stressed. METHODS: The history and ocular findings of a patient with MEN 2b syndrome are described, and a brief overview of the syndrome is given. RESULTS: Slit-lamp examination showed extremely thickened corneal nerves as well as multiple small plexiform and nodular subconjunctival tumors. Both eyes also displayed thickened upper and lower eyelids. A molecular genetic study of the RET proto-oncogene showed a heterozygous ATG to ACG mutation in codon 918 of exon 16. CONCLUSION: Greatly thickened corneal nerves and subconjunctival tumors may be the first hint of MEN 2b. Whenever greatly thickened corneal nerves are detected, MEN 2b must be ruled out.     

Ultrastructural findings in an autopsy eye from a patient with Usher's syndrome type II.

We studied an eye taken at autopsy from a 55-year-old woman with retinitis pigmentosa and partial deafness (Usher's syndrome type II). Two years before her death, her visual acuity was R.E.: 20/80 and L.E.: 20/50, and visual fields were constricted to a 30- to 40-degree diameter with a V4e white test light. Both rods and cones were present across the retina except for areas of the midperiphery; remaining photoreceptors had shortened or disrupted outer segments, or both, and some cones had inclusion bodies in inner segments. In the macula, most of the connecting cilia of photoreceptors appeared abnormal, with either extra microtubules or an apparent disruption of the nexin link between doublet microtubules. The pigment epithelium was abnormal across the eye, with diminished apical microvilli and basal infoldings of the plasma membrane. Possible mechanisms by which abnormal cilia could lead to photoreceptor cell death are considered.     

Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities

We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities.     

I型和II 型胶原在正常角膜和圆锥角膜中的表达

目的　观察正常人及圆锥角膜中 I、II型的表达 ,探讨胶原 I、II型在圆锥角膜病变中的变化。方法　采用免疫组织化学 - SA BC法检测角膜组织中胶原 I、II型胶原的表达。结果　胶原 I型在正常角膜和圆锥角膜的上皮层、实质层及内皮层均有阳性表达 ,但圆锥角膜比正常角膜的表达弱 ;而胶原 II型在正常角膜和圆锥角膜组织的基质层和 Bow m an层均可检测到 ,但圆锥角膜中 II型胶原表达减低 ,在圆锥角膜基质斑块状瘢痕区 II型胶原呈强阳性表达。结论　 I、II型胶原的减少会导致角膜的稳定性降低 ,使角膜的机械抵抗力减弱 ,并使角膜前凸变薄。     

A mouse model for Stickler's syndrome: ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1)

The influences of targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1) on eye structures in the 15-month-old C57BL/6JOlaHsd mouse was studied. The eyes were collected from C57BL mice heterozygous for a targeted inactivation of one allele of the Col2a1 gene (Col2a1(+/-) mice). The eyes of C57BL mice with normal gene alleles were used as controls (Col2a1(+/+) mice). Ocular histology was analyzed from tissue sections, stained with hematoxylin and eosin, toluidine blue and alcian blue. Type II collagen was localized by immunohistochemistry. Hyaluronan (HA) was stained utilizing the biotinylated complex of the hyaluronan-binding region of aggrecan and link protein (bHABC). The anterior segment of the eye was well-formed in both genotypes, but typical folding of ciliary processes was decreased, while increased stromal extracellular matrix vacuolization was seen in the Col2a1(+/-) mice. In the lens of these mice, subcapsular extracellular matrix changes were observed. Differences in retinal structures or the number of the eyes with retinal detachment were not detected between the genotypes. In Col2a1(+/-) mice, staining for type II collagen was weaker in cornea, ciliary body, iris, lens, vitreous, retina, choroid and sclera than in the control mice. HA staining was detected in the extraocular tissues, ciliary body, iris and the choroid of both genotypes. HA staining was observed only in the vitreous body of the control animals. Heterozygous inactivation of Col2a1 gene causes structural defects in the murine eye. The observed structural changes in the ciliary body, lens and vitreous of the Col2a1(+/-) mice may represent ocular features found in the human Stickler syndrome, where the abnormalities result from COL2A1 gene mutations which lead to functional haploinsufficiency.     

New ocular findings in Gaucher's disease: a report of two brothers

White deposits in the peripheral corneal endothelium, chamber angle and pupil margin are new findings in 1 of a sibship of 2 males affected by Gaucher's disease.     

Suppression of ocular inflammation in endotoxin-induced uveitis by blocking the angiotensin II type 1 receptor

PURPOSE: To examine whether the angiotensin II type 1 receptor (AT1-R) signaling plays a role in ocular inflammation in endotoxin-induced uveitis (EIU). METHODS: EIU was induced in C57BL/6 mice by a single intraperitoneal injection of 150 mug lipopolysaccharide (LPS). Tissue localization, mRNA expression, and protein levels of AT1-R in murine retinas were examined by immunohistochemistry, RT-PCR, and Western blot analyses, respectively. Telmisartan, an AT1-R antagonist widely used as an antihypertensive agent, was administered intraperitoneally at a dose of 10 mg/kg daily for 5 days until the injection of LPS. Twenty-four hours after administration, leukocyte adhesion to the retinal vasculature was evaluated with a concanavalin A lectin perfusion-labeling technique. Retinal mRNA and protein levels of intercellular adhesion molecule (ICAM)-1 were examined by RT-PCR and ELISA, respectively. Protein concentration and inflammatory cells in the aqueous humor were also measured. RESULTS: Retinal vessels were positive for AT1-R. In mice with EIU, retinal AT1-R mRNA and protein levels were significantly increased when compared to the normal control. EIU animals also showed significant increases in the number of inflammatory cells infiltrating the anterior chamber and adhering to the retinal vessels and in retinal ICAM-1 levels. Administration of telmisartan to EIU mice resulted in significant suppression of retinal ICAM-1 expression and leukocyte adhesion and infiltration compared with vehicle treatment. Protein concentration in the aqueous humor of telmisartan-treated EIU mice tended to be lower than that of vehicle-treated EIU mice, but the difference was not statistically significant. CONCLUSIONS: AT1-R signaling blockade inhibited retinal ICAM-1 upregulation and leukocyte adhesion and infiltration in the EIU model. These results suggest the potential use of an AT1-R antagonist as a therapeutic agent to reduce ocular inflammation.     

Ultrastructural identification of type I and II collagen in the cornea of the mouse by means of enzyme labeled antibodies

Summary Following reaction with peroxidase-coupled IgG antibodies, collagen of both type I and type II can be demonstrated light and electron-microscopically in the cornea of the mouse by means of purified, type-specific antibodies against collagen. Both type I and type II collagen seem to be evenly distributed in the cornea, with the amount of type I exceeding that of type II.This paper was presented in part the Sixth Annual Meeting of the European Club for Ophthalmic Fine Structure in Paris, France on March 31 and April 1, 1978     

Efficacy of a helicase-primase inhibitor in animal models of ocular herpes simplex virus type 1 infection

PURPOSE: The aim of this study was to evaluate the effect of BAY 57-1293, a helicase-primase inhibitor, on herpes simplex virus type 1 (HSV-1) reactivation in mice and its efficacy on established disease in rabbits. METHODS: BALB/c mice latent for McKrae-strain HSV-1 were reactivated via heat stress, treated with BAY 57-1293, and their corneas were swabbed for virus or the trigeminal ganglia (TG) obtained for quantification of viral DNA. New Zealand white rabbits were infected and treated topically or orally in comparison with trifluridine or valacyclovir. RESULTS: Oral BAY 57-1293 suppressed reactivation in HSV-1-infected mice and reduced the viral load in TG up to four orders of magnitude. In the rabbits, the therapeutic efficacies of topical BAY 57-1293 and trifluridine were similar. Once-daily oral BAY 57-1293 was significantly more effective than valacyclovir and as effective as twice a day topical trifluridine. CONCLUSIONS: BAY 57-1293 may be more effective than valacyclovir, without the cytotoxicity or potential healing retardation seen with trifluridine. Oral BAY 57-1293 may be a substitute for eye drops as an effective treatment for herpetic keratitis and might be useful in treating stromal keratitis and iritis, as well as preventing recurrences of ocular herpes.