Congenital absence of the salivary glands and lacrimal puncta is a rare autosomal-dominant disorder with variable expressivity. Only a few instances of this condition have been reported. We present the first Brazilian observation of this syndrome and a review of the literature.
Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.
Importance of intraocular pressure measurement at 6:00 a.m. in bed and in darkness in suspected and glaucomatous patients A importância da medida da pressão intraocular às 6 horas no leito e no escuro em suspeitos e portadores de glaucoma SEBASTIÃO (1)(2)(3)(4) . Recently, it was demonstrated in the Advanced Glaucoma Intervention Study (AGIS) that long-term IOP fluctuation is associated with a progression of visual field loss in patients with low mean IOP but not in patients with high mean IOP (5) .This fact has been well-
ABSTRACTPurpose: To assess the importance of intraocular pressure measurement obtained at 6:00 a.m. in bed and darkness for the diagnosis and intraocular pressure control of primary open-angle glaucoma.Methods: Retrospective analysis of the daily curve of intraocular pressure of suspects and glaucomatous patients under treatment. Suspects were classified as intraocular pressure values ranging from 19 to 24 mmHg in isolated measurements and/or cup/disc ratio ≥ 0.7 in one or both eyes and/or asymmetry of cup/disc ratio ≥ 0.3 and a normal visual field. Each daily curve of intraocular pressure comprised five to seven IOP measurements with Goldmann applanation tonometer at 9:00 a.m., 12:00 p.m., 3:00 and/or 6:00 and 10:00 p.m. and/or 12:00 a.m. and in the following day morning at 6:00 a.m. in supine position in bed and in darkness with Perkins tonometer before the patient had stood up. Only the daily curves of intraocular pressure that presented an intraocular pressure peak (difference between the higher and the lesser intraocular pressure value) >6 mmHg were analyzed. In these daily curves, the average intraocular pressure and the standard deviation were calculated. The average intraocular pressure and standard deviation values were compared with the normal superior limits: average + two standard deviation of average intraocular pressure and standard deviation of intraocular pressure daily curve from normal patients of the same age group. Daily curves were considered abnormal when their average intraocular pressure and standard deviation values were above the normal superior limits. Secondary and congenital glaucoma were excluded. Results: Daily curves of intraocular pressure of 565 eyes were analyzed; 361 suspected eyes and 204 eyes with primary open-angle glaucoma. In suspects, 64.3% presented an intraocular pressure peak at 6:00 a.m. in bed. In primary open-angle glaucoma, 68.6% presented an intraocular pressure peak at 6:00 a.m. in bed. In 5.3% of the suspects and in 5.9% of primary open-angle glaucoma patients, the daily curve of intraocular pressure profile was inverted (lesser intraocular pressure at 6:00 a.m.). Conclusion: Intraocular pressure peaks at 6:00 a.m. were responsible for the diagnosis of preperimetric glaucoma in 64.3% of suspects and revealed inadequate intraocular pressure control in 68.6% of eyes with primary openangle glaucoma. The daily curve of intraocular pressure including the intraocular pressure measurement at 6:00 a.m. in bed and in darkness is of vital importance...
Objective:To analyze the clinical and ophthalmological findings of patients with nevus of Ota. Methods: Retrospective analysis of patients' charts with nevus of Ota. We registered the demographic data, location of the nevus and date of appearance, family history of similar spots, biomicroscopic, gonioscopic, tonometric, ophthalmoscopic and perimetric findings. Results: We included 14 patients, six (43.0%) men and eight (57.0%) women, with a mean age of 21.7±17.5 years. Ten (71%) were mulatto, three (21.4%) white and one (7.1%) black. Twelve (85.7%) patients presented the spots at birth and two in puberty. Nine patients presented conjunctival and episcleral pigmentation in the right eye and five in the left eye. According to Tanino's classification, five (35.7%) nevi were class 1, eight (57.1%) class 2 and one (7.1%) class 3. Heterochromia iridis was found in eight (57.1%) patients. Anisocoria was present in three (21.4%) patients. Five (35.7%) patients presented a suspected glaucomatous cup disc ratio (≥0.7); six (42.9%) presented a cup disc ratio ≤ 0.5 and three (21.4%), no cup disc. We found two curious and remarkable findings: a nevus of Ota on the palate of one patient and other on the optic disc associated with a pigmentary mottling of the fundus in another patient. The pigmentary mottling of the fundus was also seen in four more eyes. Conclusions: The nevus of Ota was frequently present at birth, in mulattos, and classified as Tanino's class 1 and 2. Heterochromia iridis was a common finding. Anisocoria was present in a small percentage of eyes. No patient developed glaucoma or malignancy.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.