1/10. Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation: a preliminary report.A newborn male presented with complete external third nerve palsy of his right eye immediately at birth. Pediatric examination and MRI of the skull revealed no abnormalities. At the age of six weeks, strabismus surgery was performed to facilitate amblyopia treatment. The muscles appeared small and fibrotic. At the age of ten weeks, a brow suspension of the upper lid and a second strabismus surgery were performed. The amblyopia treatment and patching, applied for half of the waking hours over a period of six weeks, were unsuccessful. At the age of six months, a relative pallor of the right optic nerve head became evident. At the age of three years, at a new examination because of growth deficiency, a second MRI revealed defects involving the pituitary region. We concluded that extraocular muscle abnormality or oculomotor nerve palsy was present together with optic nerve dysplasia and pituitary gland malformation.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/10. holoprosencephaly and cyclopia visualized by two- and three-dimensional prenatal ultrasound.We report on the ultrasound (US) detection of holoprosencephaly with cyclopia at a gestational age of 16 weeks. The sonographic diagnosis was based on the intracranial finding of fused thalami with no visible midline structures and facial abnormalities, including cyclopia and proboscis. We evaluated the fetal face by 3-dimensional (3D) transabdominal US and were able to identify the cyclopia below the proboscis. These findings are characteristic of alobar holoprosencephaly. With the informed consent of the patient, the pregnancy was terminated by prostaglandin induction after proper counseling. Chromosome study of the abortus revealed a normal karyotype (46, XY). Postmortem examination of the abortus confirmed the presence of cyclopia and a proboscis. The use of 3D prenatal US made additional diagnostic images possible.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
3/10. mutation of the FOXC2 gene in familial distichiasis.OBJECTIVE: To examine the FOXC2 gene in a family with hereditary distichiasis. BACKGROUND: Distichiasis, ie, a second row of eyelashes arising from the meibomian glands of the eyelids, can be inherited either alone (Online Mendelian Inheritance in Man [OMIM] no. 126300) or, more commonly, as part of the lymphedema-distichiasis (LD) syndrome (OMIM no. 153400). More than 45 families with mutations in the FOXC2 gene and LD have been described. Both lymphedema and distichiasis are highly penetrant. Distichiasis without lymphedema is not commonly seen. methods: We examined three generations of a family (N = nine members) with hereditary distichiasis but without lymphedema or other features of LD syndrome. The FOXC2 gene was polymerase chain reaction--amplified from genomic dna from all family members and examined for mutations. RESULTS: Clinical examination showed distichiasis of all four lids in two affected family members across two generations. There were no other consistent ophthalmologic abnormalities in the family. A cytosine-to-adenine transversion was identified in dna from affected study participants at nucleotide position 1076, which would be predicted to cause truncation of the protein at codon 359. This change was not observed in any of the nine unaffected family members participating. CONCLUSIONS: This finding suggests that hereditary distichiasis and LD may not be separate genetic disorders but different phenotypic expressions of the same underlying disorder. Ophthalmologists should be aware that LD may present as distichiasis alone and counsel and refer their patients appropriately.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
4/10. Increased tear evaporation in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome.PURPOSE: To describe the tear function and ocular surface disorders in a patient with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. methods: Routine ophthalmic examinations were performed, including slit-lamp biomicroscopy, anterior segment photography including transillumination photos of the lids, Schirmer tests I and II, tear film break-up time (BUT) assessment, corneal fluorescein staining, DR-1 tear film lipid layer interferometry, and tear evaporation rate measurements. RESULTS: Slit-lamp examination revealed conjunctival hyperemia, superficial punctate keratopathy, and corneal leucoma with neovascularization. Although the Schirmer test values were within normal limits, the BUT value was 0 s in both eyes. transillumination of the lids showed the absence of meibomian glandular structures. DR-1 tear film lipid layer interferometry results were dry eye grade 5 with an irregular tear film, areas of corneal surface exposure, and several dry spots. The tear evaporation rate was elevated and was measured as 6.98 x 10(-7) g/cm2 per second (normal, 4.1 /- 1.4 x 10(-7) g/cm2 per second). CONCLUSION: The ocular surface disorder and shortened BUT in EEC syndrome were attributed to the absence of meibomian glands, leading to lipid layer deficiency in the tear film with a concomitant increase in tear evaporation.- - - - - - - - - - ranking = 2keywords = gland (Clic here for more details about this article) |
5/10. Two cases of lacrimal gland agenesis in the same family--clinicoradiologic findings and management.BACKGROUND: Lacrimal gland agenesis is extremely rare. This condition is occasionally associated with salivary gland agenesis and abnormalities in the lacrimal drainage system, particularly occlusions of the lacrimal puncta and canaliculi. The detailed presentation of clinicoradiologic findings and treatment modality has not been previously reported. methods: A 6-year-old boy was presented to our department complaining of severe foreign-body sensations in both eyes. Punctate epithelial erosions and mucous filaments were noted in both eyes. His tear break-up time (TBUT) was less than 1 second, and a Schirmer's test (both eyes) detected less than 1 mm of wetting in 5 minutes. His mother had similar complaints dating back to childhood. RESULTS: Orbital computed tomography (CT) scan and magnetic resonance imaging (MRI) revealed the absence of both lacrimal glands and all major salivary glands. After the insertion of a lacrimal punctal plug, punctate epithelial erosions and mucous filaments decreased remarkably within 2 weeks. MRI scans of the patient's mother confirmed the absence of both lacrimal glands and salivary glands. She had been using artificial tears for a long time. INTERPRETATION: The absence of lacrimal glands can be confirmed by clinicoradiologic findings, and the punctal plug may be an effective tool for the treatment of patients who retain a patent lacrimal drainage system.- - - - - - - - - - ranking = 11keywords = gland (Clic here for more details about this article) |
6/10. congenital hypothyroidism in Peters plus syndrome.Peters plus syndrome is a multiple malformation syndrome characterized by a combination of Peters anomaly of the eye and other extraocular defects, including short-limb dwarfism, a thin upper lip, hypoplastic columella, and a round face. Two unrelated children with the typical features of Peters plus syndrome and hypothyroidism have been previously reported in medical literature. Herein, we report a male patient who exhibited the Peters plus syndrome phenotype as well as hypothyroidism and provide further evidence that hypothyroidism may represent an under-recognized feature of Peters plus syndrome. The consanguinity of the parents in the present case supports, but does not confirm, the notion that a homozygous defect in a single autosomal recessive gene might be responsible for the normal morphogenesis of both the anterior chamber and the thyroid gland.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
7/10. A lethal presentation of de novo deletion 7q.Deletion of 7q32 qter is a well defined syndrome which usually arises de novo. The proband we report was the result of an uncomplicated 36 week first pregnancy of non-consanguineous Oriental parents. The male infant died shortly after birth. Chromosome studies of peripheral blood and umbilical cord revealed 46,XY,del(7), apparently (q32 qter). The parents' karyotypes were normal. The observed facial structural abnormalities and hydrocephalus rather than microcephaly are in sharp contrast to the clinically described syndrome. The lethal components, absence of suprarenal glands and hydranencephaly, suggest either an unknown confounding factor or a more proximal deletion with an alternative interpretation of 7q--(q23.1 q36.1) rather than the apparent breakpoint at 7q32.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
8/10. Oncocytic cardiomyopathy in an infant with oncocytosis in exocrine and endocrine glands.An 11 week old female infant with congenitally malformed eyes died from intractable cardiac arrhythmia. The heart showed extensive oncocytic transformation of myocytes, and this distinctive cardiomyopathy affected the conduction system. Oncocytes were found also in endocrine (pituitary, thyroid) and exocrine (submandibular, sublingual, minor salivary) glands. There is morphologic evidence that the lesions were caused early in gestation, possibly by a viral infection such as rubella.- - - - - - - - - - ranking = 5keywords = gland (Clic here for more details about this article) |
9/10. Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Clinical and pathologic findings.A patient with Aicardi's syndrome had the complete clinical picture of mental subnormality, convulsions, electroencephalographic disturbances, ocular anomalies, female sex, and agenesis of the corpus callosum. A second patient had the features of the syndrome, with microphthalmia and one patient had the features of the syndrome, with microphthalmia and one depigmented zone. In both cases and in Brihaye's case, no pineal gland was found. Since the epiphysis cerebri is important as a clock for sexual development, its absence may be incompatible with the development of a male fetus. The pathogenesis of the syndrome remains obscure. While an exogenous cause may be at work in some of the cases, the complex and stereotypical character of the symptoms plead for a hereditary origin.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
10/10. Complex limbal choristomas in linear nevus sebaceous syndrome.OBJECTIVE: This study aimed to describe the clinical and histopathologic findings in four patients with complex limbal choristomas associated with linear nevus sebaceous syndrome (LNSS), a rare disorder including nevus sebaceous, seizures, and mental retardation, and often accompanied by ocular anomalies. DESIGN: Small observational case series. methods: A retrospective review of the clinical and histopathologic records of four patients. RESULTS: Each of four patients had complex limbal choristomas in the setting of clinical and histopathologic LNSS. The limbal choristomas were multiple in three patients and bilateral in two patients. Most choristomas involved the superotemporal limbus (6 of 10), although nasal (3 of 10) and inferior (1 of 10) limbal tumors also were present. Three patients had significant corneal astigmatism or involvement of the central cornea requiring surgical removal of their choristomas, one accompanied by a lamellar keratoplasty and another accompanied by two consecutive penetrating keratoplasties. Each graft eventually vascularized, reducing vision. One patient's vision was limited by amblyopia and another by occipital cortical dysgenesis with visual impairment. Histopathologic examination of the excised choristomas showed foci of lacrimal gland (3 of 4 patients), adipose tissue (3 of 4), neural tissue (1 of 4), cartilage (1 of 4), lymphoid follicles (1 of 4), skin adnexal tissue (1 of 4), and smooth muscle (1 of 4). Other associated ocular findings included an eyelid mass (1 of 4), colobomas of the eyelid (3 of 4), colobomas of the choroid and retina (2 of 4), nonparalytic strabismus (2 of 4), scleral ectasia (1 of 4), partial oculomotor palsy with ptosis and anisocoria (1 of 4), microphthalmia (1 of 4), hypertelorism (1 of 4), and cortical visual impairment (1 of 4). CONCLUSIONS: Complex limbal choristomas, although rare, can occur in the setting of LNSS and can be associated with multiple ocular and systemic abnormalities. Visual prognosis appears poor in most cases despite aggressive management.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
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