Características morfométricas de disco óptico y espesor de capa de fibras nerviosas de la retina mediante tomografía de coherencia óptica Cirrus 5000 en pacientes sanos atendidos en el Instituto Nacional de Oftalmología / Morphometric characteristics of the optical disc and thickness of retinal nerve fibre layer using Cirrus 5000 optical coherence tomography in healthy patients attending the National Institute of Ophthalmology

OBJETIVO: Describir las características morfométricas y espesor de la capa de fibras nerviosas de la retina (CFNR) en pacientes sanos usando la tomografía de coherencia óptica. MÉTODOS: Estudio transversal y descriptivo. Un total de 184 ojos de 184 personas de etnia mestiza fueron inscritos después de una evaluación oftalmológica completa en el Instituto Nacional de Oftalmología, Lima-Perú. Se midieron los parámetros morfométricos del disco óptico y espesor de la CFNR mediante tomografía de coherencia óptica ZEISS CIRRUS(TM) HD-OCT Modelo 5000 (Carl Zeiss Inc., Dublin, CA, EE.UU). Megalopapila fue definida como: área del disco óptico > 2,5 mm2 y área mayor que la media más 2 desviaciones estándar. RESULTADOS: Se obtuvo un área de disco óptico de 2,21 ± 0,43 mm2, anillo neurorretinal de 1,37 ± 0,25 mm2, excavación de 0,84 ± 0,48 mm2; promedio de ratio excavación/disco de 0,58 ± 0,16, ratio excavación/disco vertical de 0,55 ± 0,15 y un espesor de CFNR 100,30 ± 8,54 μm. La prevalencia de megalopapila fue del 24 y 4%, considerando un área de disco > 2,5 mm2 y 3,07 mm2 respectivamente. Al comparar megalopapilas con discos normales, el área del anillo (p = 0,08) y espesor de CFNR (p = 0,73) no mostraron diferencias estadísticamente significativas. CONCLUSIÓN: El área de disco fue 2,21 ± 0,43 mm2 con un espesor de CFNR 100,30±8,54μm. La prevalencia de megalopapila fue del 24 y 4%, considerando un área de disco>2,5mm2 y 3,07mm2 respectivamente. Las megalopapilas y los discos normales son similares en términos de área del anillo y espesor de CFNR

OBJECTIVE: To describe the morphometric characteristics and thickness of the retinal nerve fibre layer (CFNR) in healthy patients using optical coherence tomography. METHODS: A cross-sectional and descriptive study was conducted on a total of 184 eyes of 184 people of mestizo origin enrolled after a complete ophthalmological evaluation at the National Institute of Ophthalmology, Lima-Peru. The morphometric parameters of the optic disc and thickness of the CFNR were measured by optical coherence tomography ZEISS CIRRUS(TM) HD-OCT Model 5000 (Carl Zeiss Inc., Dublin, CA, EE.UU). Megalopapilla was defined as: area of the optical disc greater than 2.5 mm2 and area greater than the mean plus 2 standard deviations. RESULTS: The areas obtained were: optical disc of 2.21 ± 0.43 mm2, neuroretinal ring of 1.37 ± 0.25 mm2, 0.84 ± 0.48 mm2 cup; mean cup/disc ratio of 0.58 ± 0.16, vertical cup/disc ratio of 0.55 ± 0.15, and a CFNR thickness of 100.30 ± 8.54 μm. The prevalence of megalopapilla, being considered as a disc area greater than 2.5 mm2 and 3.07, was 24% and 4%, respectively. When comparing megalopapilla with normal discs, the area of the ring (P = .08) and thickness of CFNR (P = .73) did not show statistically significant differences. CONCLUSION: The mean disc area was 2.21±0.43mm2 with a CFNR thickness of 100.30 ± 8.54 μm. The prevalence of megalopapilla was 24% and 4%, considering a disc area greater than 2.5 mm2 and 3.07 mm2, respectively. These results show that the megalopapilla and normal discs are similar in terms of ring area and CFNR thickness

Morphometric characteristics of the optical disc and thickness of retinal nerve fibre layer using Cirrus 5000 optical coherence tomography in healthy patients attending the National Institute of Ophthalmology. / Características morfométricas de disco óptico y espesor de capa de fibras nerviosas de la retina mediante tomografía de coherencia óptica Cirrus 5000 en pacientes sanos atendidos en el Instituto Nacional de Oftalmología.

OBJECTIVE: To describe the morphometric characteristics and thickness of the retinal nerve fibre layer (CFNR) in healthy patients using optical coherence tomography. METHODS: A cross-sectional and descriptive study was conducted on a total of 184 eyes of 184 people of mestizo origin enrolled after a complete ophthalmological evaluation at the National Institute of Ophthalmology, Lima-Peru. The morphometric parameters of the optic disc and thickness of the CFNR were measured by optical coherence tomography ZEISS CIRRUS™ HD-OCT Model 5000 (Carl Zeiss Inc., Dublin, CA, EE.UU). Megalopapilla was defined as: area of the optical disc greater than 2.5 mm2 and area greater than the mean plus 2 standard deviations. RESULTS: The areas obtained were: optical disc of 2.21±0.43mm2, neuroretinal ring of 1.37±0.25mm2, 0.84±0.48mm2 cup; mean cup/disc ratio of 0.58±0.16, vertical cup/disc ratio of 0.55±0.15, and a CFNR thickness of 100.30±8.54µm. The prevalence of megalopapilla, being considered as a disc area greater than 2.5mm2 and 3.07, was 24% and 4%, respectively. When comparing megalopapilla with normal discs, the area of the ring (P=.08) and thickness of CFNR (P=.73) did not show statistically significant differences. CONCLUSION: The mean disc area was 2.21±0.43mm2 with a CFNR thickness of 100.30±8.54µm. The prevalence of megalopapilla was 24% and 4%, considering a disc area greater than 2.5 mm2 and 3.07 mm2, respectively. These results show that the megalopapilla and normal discs are similar in terms of ring area and CFNR thickness.

Wide clinical spectrum in Zimmermann-Laband syndrome.

Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.

BACKGROUND: Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have been reported. The affected individuals experience a diffuse progressing hair loss from childhood to adulthood that is confined to the scalp. Recently, HSS has been mapped to the short arm of chromosome 6 (6p21.3), allowing mutations in the corneodesmosin gene (CDSN) to be identified as the cause of the disorder. To date, two stop mutations have been found in three unrelated families with HSS of different ethnic origin. OBJECTIVES: To describe the first HSS-family with Latin American (Mexican) background comprising 6 generations and to identify a mutation in the CDSN gene. PATIENTS/METHODS: The patients were examined by a clinician and blood samples were taken. After DNA extraction, sequencing analysis of the CDSN gene and restriction enzyme analysis with PsuI were performed. RESULTS: By direct sequencing of the two exons of the CDSN gene, a nonsense mutation was identified in the index patient in exon 2, resulting in a premature stop codon (Y239X). The mutation co-segregates perfectly in the family with the disease and was not found in 300 control chromosomes using a restriction enzyme analysis with PsuI. CONCLUSIONS: A nonsense mutation was identified in the first family with HSS of Latin American ethnical background. Our data provide molecular genetic evidence for a 3rd stop mutation in exon 2 of the CDSN gene being responsible for HSS. All to date known nonsense mutations responsible 3 for HSS are clustered in a region of 40 amino acids which is in accordance with a dominant negative effect conferred by aggregates of truncated CDSN proteins.

Second female case of Myhre syndrome.

Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.

BACKGROUND: The identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the intermediate filaments, desmosomes, and gap junctions. Among these disorders, there is an extraordinarily heterogeneous group known as palmoplantar keratodermas (PPK), for which only a few molecular defects have been described. A particular form of PPK, known as punctate PPK, has been described in a few large autosomal dominant pedigrees, but its genetic basis has yet to be identified. AIM: Identification of the gene for punctate PPK. METHODS: Clinical examination and linkage analysis in three families with punctate PPK. RESULTS: A genomewide scan was performed on an extended autosomal dominant pedigree, and linkage to chromosome 15q22-q24 was identified. With the addition of two new families with the same phenotype, we confirmed the mapping of the locus for punctate PPK to a 9.98 cM interval, flanked by markers D15S534 and D15S818 (maximum two point lod score of 4.93 at theta = 0 for marker D15S988). CONCLUSIONS: We report the clinical and genetic findings in three pedigrees with the punctate form of PPK. We have mapped a genetic locus for this phenotype to chromosome 15q22-q24, which indicates the identification of a new gene involved in skin integrity.

Myhre syndrome: first female case.

A 15 year old girl with the Myhre type growth-mental retardation syndrome is described. This is the first female case reported in the literature. The inheritance pattern of this condition is not clear.

A variant example of familial Floating-Harbor syndrome?

The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips. Four cases with celiac disease have been described previously. In two other cases, autosomal dominant inheritance has been suggested. We describe a boy aged 2 years 11 months with clinical features of FHS and celiac disease. His mother also presents minor phenotypical characteristics, suggesting that the present observation corresponds to a variant example of familial FHS.

Del Xq23 in a mosaic Turner female: molecular and cytogenetic studies.

We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication studies showed preferential inactivation of the deleted X chromosome; FISH studies with a probe for total human telomeres showed hybridisation signal in the telomeres on both the normal and the deleted X chromosomes. Microsatellite analysis in the proposita and her family permitted us to conclude to the maternal origin of the deleted X chromosome, and to detect using the marker DXS1106 (Xq22) a probable meiotic recombination event above the breakage point suggesting that the deletion occurred underneath this point. The mild Turner stigmata may be explained by the 45,X cell line, and the gonadal dysgenesis probably by a partial deletion of the gonadal dysgenesis region Xq13-q23 (excluding Xq22).

Reproductive history in mothers of children with neural tube defects.

The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has been studied. The data analyzed correspond to the period previous to their first visit to a genetic counseling service. A total of 204 pregnancies resulted in 205 outcomes. Of the 100 sibships, 14 (14%) had more than 1 affected member. The pregnancy was shorter than 28 weeks in 56/205 (27%) of the total outcomes. Of 104 evaluable previous outcomes, 34 corresponded to short pregnancies, positioned before an affected (23/60, 38%), a healthy (2/18, 11%), or an undiagnosed product (9/26, 35%). Short pregnancies subsequent to affected outcomes were also increased. The inter-gestational interval varied according to diagnosis: it was longer in the affected group than in the healthy one (0.1 > p > 0.05) and the subsequent intervals were shorter for the affected group (p < 0.05). An increased number of abortions adjacent to affected offspring and a changing fertility pattern, depending on the product diagnosis, point to an environmental etiological component in this high-risk NTD group of mothers.

Ring-20-syndrome and loss of telomeric regions.

A patient aged 10 years and 8 months with a ring-20-syndrome was studied. Clinically he presented normal psychomotor development until 25 months of age when he began with right simple partial motor seizures. He presented minimal dysmorphism, generalized tonic-clonic seizures refractory to medical therapy and behavioral troubles. He was submitted to a callosotomy when he presented an electric status, subsequently, he was treated with anticonvulsivants and felbamate and the seizures were controlled. The karyotype showed a chromosomal complement 46,XY,r(20)(p13q13.3) with loss of the telomeric regions evidenced by FISH. The mother had normal karyotype. The clinical and cytogenetic features of previous cases described in the literature were compared leading to a better characterization of this syndrome.

An extra idic(21)(q22.1) in a child with some features of Down's syndrome.

A 30-month-old boy with mental retardation, hypotonia, joint hyperlaxity, Brushfield spots, open mouth, distal axial triradius t", and ulnar loops on both forefingers was found to have a 47,XY, + psu idic(21)(q22.1).ish psu idic(21)(q22.1)(D13Z1/D21Z1 + + ,ETS2-) karyotype. The patient's phenotype, with only some Down's syndrome (DS) features, is probably related to his disomy for most or all of the critical region 21q22.2 q22.3 and agrees with the current notion that certain DS features may also result from 21q proximal duplications. The phenotypical comparison with 2 other patients with a similar extra idic(21) reveals some discrepancies, which may be related to the inherent clinical variability of similar imbalances: yet, a real difference between the tetrasomic segments cannot be excluded. Noticeably, all 3 patients with 21q proximal tetrasomy did not have cardiac defect and exhibited none or just one out of the five other DS phenotypic features attributed to a single gene or cluster on distal 21q22.