1/7. Inherited ring chromosome 8 without loss of subtelomeric sequences.We report the first case of inherited ring chromosome 8 syndrome without loss of subtelomeric sequences. The proband is a 6 1/2-year-old boy with short stature, microcephaly, mild mental retardation, and behavioral problems including hyperactivity and attention deficit. His mother presented the same physical features but intelligence was normal. family history also revealed an uncle and a grandmother, with short stature and microcephaly. Moderate mental retardation was reported in the uncle. Karyotypes and fluorescence in situ hybridization (FISH) analyses were performed on peripheral blood lymphocytes for both child and mother. The child's karyotype was reported as 46,XY,r(8)(p23q24.3)[24]/45,XY,-8[2] and the mother's karyotype 46,XX,r(8)(p23q24.3)[22]/45,XX,-8[2]/47,XX,r(8)(p23q24.3), r(8)(p23q24.3)[1]. FISH studies showed no deletion of subtelomeric sequences for both child and mother indicating that no or little chromosomal euchromatic material has been deleted. These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. Visual improvement during psychophysical training in an adult amblyopic eye following visual loss in the contralateral eye.BACKGROUND: Recent publications have demonstrated neural plasticity in adult amblyopes subjected to psychophysical training based on perceptual learning. The purpose of this case report is to present rarely available prospective data of visual acuity development in a strabismic amblyope undergoing psychophysical training and pleoptic treatment after loss of function of the non-amblyopic eye. methods: The design is a prospective, observational and interventional case report. visual acuity was tested monthly, with constant optical correction. The 60-year-old female patient participated in a psychophysical training implemented in our laboratory, and in pleoptic treatment. RESULTS: Slow functional improvement of the amblyopic eye was observed during a period of 10 months, both in the tests used for training and in visual acuity: single optotypes increased by 4 chart lines, crowded optotypes by 2-3 lines. CONCLUSIONS: To our knowledge, this is the first report of the new approach of perceptual learning in an adult amblyope after loss of vision in the contralateral eye. Our results represent further evidence that the visual system of adult amblyopes preserves a certain degree of neural plasticity, whether spontaneous or enhanced by training. Furthermore, that plasticity in adults is limited, and early diagnosis and treatment of amblyopia must remain the primary goal.- - - - - - - - - - ranking = 7keywords = physical (Clic here for more details about this article) |
3/7. Training the adult amblyopic eye with "perceptual learning" after vision loss in the non-amblyopic eye.We recently reported acuity development in the amblyopic eye of a 60-year-old patient after loss of vision in her non-amblyopic eye. Here, we focus on the training that we implemented, based on new insights from psychophysical procedures aiming at functional visual improvement of adults ("perceptual learning"). We alternately used the following procedures: grating acuity (Teller-Cards); contrast sensitivity (Vistech-charts); two spatial localization tests (vertical alignment, pointing); and labyrinth patterns for a eye-hand coordination exercise. One month without intervention was followed by six months of training and two blocks of pleoptic treatment. Clinical parameters were assessed monthly. Besides acuity gain, we observed enhanced grating resolution and contrast sensitivity, decreased alignment distortions, pointing shifts, mainly after pleoptics, and more efficient labyrinth tracing. A questionnaire reflected the patient's perception of the changes. These data confirm the plasticity of the adult amblyopic system, be it spontaneous due to the loss of the non-amblyopic eye or caused by the intervention or both. Further experience is necessary to isolate the role of the intervention. Our results also underline the limitation of adult plasticity, emphasizing the importance of early diagnosis and treatment of amblyopia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. Alcohol amblyopia.Alcohol amblyopia is a disorder that affects a small percentage of alcoholic patients, most of whom are nutritionally deficient. A battery of tests is required to make the diagnosis including color vision and field testing. Once the diagnosis is made, physical, emotional, and visual rehabilitation should be undertaken. A case of alcohol amblyopia is presented along with optometric management techniques.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. Coats' disease in a patient with Cornelia de lange syndrome.A 16-month-old boy had the mental and physical retardation, low-pitched cry, phocomelia with syndactyly, hirsutism, low-set ears, bushy eyebrows, elongated eyelashes, blepharoptosis, and strabismus characteristic of Cornelia de lange syndrome along with ophthalmoscopic findings characteristic of Coats' disease. cryotherapy made the abnormal telangiectatic vessels less prominent, but macular scarring produced poor visual acuity. Occlusion therapy was unsuccessful.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. Macular cysts and holes.The ocular findings in an eight-year-old Negro male with unilateral axial myopia and bilateral macular cysts and holes are presented. Normal psychophysical, electrophysiologic, and angiographic findings were noted despite obvious anatomic changes. The constellation of observed findings in this patient appears to be unique.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Myelinated nerve fibers associated with afferent pupillary defect and amblyopia.A case is reported of myelinated fibers of the optic nerve associated with amblyopia and an afferent pupillary defect. The optic foramen on the involved side was larger; however, there were no other physical findings to which we could attribute the amblyopia and Marcus Gunn pupil.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |