A progressive early onset cataract gene maps to human chromosome 17q24.

Cerulean cataract is an autosomal dominant, early onset, progressive cataract characterized by blue or white opacifications in the nucleus and cortex of the lens. A large four-generation pedigree in which cerulean cataract segregates was studied for linkage analysis. A genome wide search was undertaken after the plausible candidate genes were excluded and the cerulean cataract phenotype was mapped to chromosome 17q24. The three markers closest to the disease gene are D17S802 (Z)(theta) = 9.46 at (theta) = 0.085), D17S836 (Z(theta) = 5.26 at (theta) = 0.031) and AFMa238yb5 (Z(theta) = 7.11 at (theta) = 0.032). Multipoint linkage analyses yielded a maximum lod score of Z(theta) = 13.71, placing the cerulean cataract gene between D17S802 and D17S836 at (theta) = 0.048 and (theta) = 0.013, respectively.

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.

Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.

Unusual cause of short stature.

A 24-year-old man evaluated for paresthesias and short stature was found to be hypocalcemic on initial presentation. Further evaluation showed that he had a low-normal parathormone level by amino-terminal assay, medullary stenosis of the long bones, and multiple ophthalmologic abnormalities. The remainder of his pituitary function, including growth hormone response to insulin-induced hypoglycemia, was normal. As no family history of similar findings was evident, a sporadic case of Kenny's or Kenny-Caffey syndrome was diagnosed. He became normocalcemic in response to vitamin D and calcium carbonate therapy. The results of testing in this patient and the findings in other patients previously described with the Kenny-Caffey syndrome are reviewed.

Stereo-discrimination between diplopic images in clinically normal observers.

When retinal disparity exceeds the limits for fusion, the resulting images are perceived as diplopic. In a stereo test that allowed comparison of crossed and uncrossed disparity sensitivities, 74% of the subjects perceived convergent disparities more readily than divergent disparities. This asymmetric sensitivity to disparity did not appear to be related to measurements of phoria, vergence amplitudes, or clinical measurements of stereo acuity.

Brachymesomelia and Peters anomaly: a new syndrome.

We report on a child with an unusual mesomelic bone dysplasia and Peters anomaly. While there is some resemblance to the radiographic findings and corneal clouding described by Pillay in the OMMD (ophthalmomandibulo-melic dysplasia) syndrome, there are also differences. The several syndromes that combine brachymesomelia and corneal clouding are discussed.

Phenotypic variation in the del(12p) syndrome.

Previous reports suggested the existence of a del(12p) syndrome. Phenotypic abnormalities associated with del(12p) appear to be mental retardation, microcephaly, and micrognathia. The patient with del(12p) reported here was normocephalic and large for gestational age. She probably had sclerocornea, a finding not previously associated with del(12p). Phenotypic variation in del(12p) syndrome is probably caused by differences in the size of the deleted segment and/or the presence or absence of mutant genes on the homologous 12p segment.

Further linkage data on Norrie disease.

We obtained a LOD score of +1.61 using DNA marker L1.28 in 5 generations of a family with Norrie disease, raising the total LOD score to +5.42. There have been no recombinations between the 2 loci in any family to date, making the marker useful for genetic counseling.

Linkage analysis in lattice corneal dystrophy.

Two kindreds of lattice corneal dystrophy (LCD) [McKusick, 1983, catalog No. 12220] were studied for linkage. Fifty-one relatives were examined clinically, and 27 affected and 24 normal persons were ascertained. Tight linkage could be excluded for 15 informative markers with LOD scores of less than -2.0. The largest positive LOD score was 0.56 at 0 = 0.17 for linkage between haptoglobin and LCD. Combined with a previous study, the combined LOD score is 0.96.

Surgical dissection of capillary hemangiomas. An alternative to intralesional corticosteroids.

Intralesional corticosteroids are often successful in reducing the size of functionally significant capillary hemangiomas. While they may have a better benefit-risk ratio than some earlier treatment methods, a number of serious complications have been reported recently. We believe these resulted from the hemodynamic continuity of capillary hemangiomas with the orbital and systemic circulation and that intralesional injections are intravascular. Surgery has generally been avoided because capillary hemangiomas are not encapsulated and piecemeal resection can produce significant bleeding. In carefully selected patients, we have used a surgical approach that involves dissection on the tumor's surface without entering its substance. Hemangiomas were removed en bloc from five patients with insignificant blood loss and excellent anatomic restoration.

Dominantly inherited keratitis.

A new, autosomal dominant keratitis is presented. The onset occurs in early childhood with episodes of red, irritated eyes but not recurrent erosions. There are no associated systemic abnormalities. The primary histopathologic features are vascularization and inflammation of the anterior corneal stroma, and replacement of Bowman's layer by fibrovascular tissue. Thus, this disease demonstrates characteristics of both a dystrophy with familial occurrence and early onset, and a degeneration with primary inflammation and vascularization.

Peters' anomaly as a consequence of genetic and nongenetic syndromes.

A new syndrome includes Peters' anomaly and short-limbed dwarfism. A balanced chromosomal translocation in the brother (patient 1) appears to be coincidental to the physical abnormalities, because his sister (patient 2) has identical findings but normal fibroblast and lymphocyte karyotypes. Peters' anomaly, which includes corneal clouding, iris and/or lens adhesions to the cornea, and the absence of endothelium and Descemet's membrane, is often associated with systemic abnormalities. Since there are different genetic and nongenetic systemic conditions that include Peters' anomaly, and there are several ocular syndromes with features overlapping this disorder, we believe that Peters' anomaly is a morphologic finding rather than a distinct entity.

Early retinal vessel development and iris vessel dilatation as factors in retinopathy of prematurity. Cryotherapy for Retinopathy of Prematurity (CRYO-ROP) Cooperative Group.

OBJECTIVE: To determine whether the extent of retinal vessel development present on early screening examinations for retinopathy of prematurity has prognostic value? DESIGN: The prospectively collected data from the Multicenter Trial of Cryotherapy for Retinopathy of Prematurity were used to compare the development of acute retinopathy of prematurity and long-term structural and visual outcomes for eyes with differing extents of retinal vessel development. PATIENT: Study patients had eyes with the following vessel development. In zone I eyes, vessels extended from the disc less than twice the distance from the disc to the macula. In zone II eyes, vessels extended beyond zone I but not to the nasal ora serrata. Transitional eyes had vessels partly in zone I and partly in zone II. RESULTS: The chance of developing threshold retinopathy of prematurity was inversely related to the early degree of vessel development: 54% for zone I eyes, 25% for transitional eyes, and 8% for zone II eyes. The presence of prominent iris vessels at 34 to 35 weeks of postmenstrual age was associated with increased risk for all three groups; zone I eyes almost always needed treatment (94%). The chance of having an unfavorable anatomic alteration of the posterior fundus, or poor vision at the ages of 1 year and 3 1/2 years, was also inversely related to the degree of early vessel development. Vessel development was an independently important factor even when birth weight, gestational age, and race were considered. CONCLUSIONS: The degree of early retinal vessel development is a significant predictor of outcome from retinopathy of prematurity. Iris vessel dilatation is an important indication for greater vigilance in following these infants.

The genetic aspects of neurofibromatosis.

Although the genetic pattern in NF has been definitely established as autosomal dominant, more precise data regarding penetrance, natural history, prevalence, and heterogeneity are needed for the counseling of families. NF is the prototypic disorder for the study of the biologic mechanisms of variable expressivity. The widely cited prevalence figure of Crowe is probably too high; thus the mutation ratio estimation in NF is among the highest in man but close to other common Mendelian disorders. With the existing data on frequency of Lisch nodules and with future prospective date on café-au-lait spot development, an age-of-onset penetrance curve for NF could be constructed for genetic counseling purposes. The segmental form of NF is of interest as cases of this presentation may be helpful in studying the hypothesis of human somatic mutation when DNA analysis is available. Guidelines for routine evaluation and ongoing health supervision of individuals with neurofibromatosis need to be developed; multidisciplinary NF clinics and collaborative study groups are appropriate settings for this undertaking. Neurofibromatosis is an important disorder for the study of the psychodynamic processes that families experience in dealing with uncertainty.

Periocular infection after strabismus surgery. The Periocular Infection Study Group.

Fewer than 15 cases of cellulitis and subconjunctival abscess after extraocular muscle surgery have been reported in detail. In an effort to provide greater information about this serious complication, the members of the American Association for Pediatric Ophthalmology and Strabismus (AAPO&S) were surveyed and contributed cases were analyzed. Among the 25 cases of cellulitis, there was a predominance of preschool age patients and Staphylococcus aureus cultures. Many cases presented after a normal initial postoperative visit. The most common symptoms were marked swelling and pain. Possible predisposing factors included unsuspected sinusitis, eye rubbing, and poor hygiene. Two patients had documented bacteremia, but no patient developed endophthalmitis. All cases resolved on antibiotics, but only five patients were successfully treated with oral antibiotics alone. Periocular infections after extraocular muscle surgery can present after a normal initial postoperative visit. Symptoms of marked swelling and pain are cause for closer inspection. S. aureus is the most common organism and oral antibiotics alone can fail to halt the infection.

Therapy of anisometropic amblyopia.

In 67 patients with strictly anisometropic amblyopia, we found statistically significant correlations among three measurable parameters: the vision before treatment, the amount of anisometropia and the vision after treatment. The predetermined factors associated with success of treatment were 1) lower amounts of anisometropia, particularly less than six diopters for myopes, 2) better initial vision, and 3) a younger patient for hyperopic differences. Patients with less than three diopters of anisometropia were more likely to succeed with the use of glasses alone and a trial of glasses did not prolong therapy time. Despite a substantial number of older patients with extreme amounts of anisometropia or very poor vision, the group as a whole did well with 70% achieving 20/40 or better. Thus therapy should be approached enthusiastically, even for highly myopic patients since other authors have reported success with them. The factors under the control of the ophthalmologist which will promote success in these patients are correct glasses prescriptions, particularly with full astigmatic correction, continued use of glasses as maintenance therapy, and patience, since these children required a median of eight months for therapy to be successful.

Acquired retraction syndrome associated with orbital metastasis.

A patient with metastatic disease of the lateral orbit developed an acquired motility defect similar to Duane's retraction syndrome. An acquired retraction syndrome, unlike the congenital form, is due either to mechanical defects of the orbit and eye or to neurologic disease. The direction of gaze in which the retraction occurs is the clinical clue to the location of the restricting element in the mechanically caused cases.

Iris hypoplasia in incontinentia pigmenti.

This report describes a young girl with ocular and dermatologic manifestations of incontinentia pigmenti. Fortunately, she has thus far been spared the more severe systemic problems, as well as any vision-threatening complications. However, a unique finding of sector stromal hypoplasia of the iris in her left eye was noted. It is interesting to speculate that this iris pigmentary disturbance may in some way relate to the underlying pigmentary disturbance seen in the skin and in the retinal pigment epithelium.

The visually inattentive preterm infant.

A retrospective study was made of 16 premature infants who were visually inattentive despite normal eye findings and a lack of factors predisposing them to cerebral blindness. A comparison of this study group with other premature infants who were visually attentive revealed a much greater incidence of upper motor neuron disease and mental retardation in the study infants.

Compliance with a standard of care for retinopathy of prematurity in one neonatal intensive care unit.

Standards of care are an integral part of providing safe and proper health care to the public. One such standard is the screening of premature infants for retinopathy of prematurity. In a retrospective chart review of 67 infants in an intensive care nursery, a high incidence of non-compliance with the standard was found in infants with over 1251-g birth weight, but that infants under 1251-g birth weight and eligible for participation in an investigation of retinopathy of prematurity had a high degree of compliance with the standard. These findings resulted in the adoption of recommendations to improve compliance with the standard.

Follow up retrospective study of compliance with a standard of care for retinopathy of prematurity in one neonatal intensive care unit.

A retrospective chart review was conducted to determine the impact of recently instituted guidelines on compliance with the standard of care for retinopathy of prematurity (ROP) in the Newborn Intensive Care Unit at the University of Utah Medical Center. In a previous study, it was found that infants eligible for participation in a National Institutes of Health-funded study of ROP were routinely receiving screening eye examinations, whereas infants who qualified for ROP screening according to the standard of care, but not eligible for the study, were seen infrequently. Consequently, a plan to improve the compliance with the standard of care for all infants who fit the standard criteria was implemented. The comparison revealed significant improvement in compliance rates. In one subgrouping of infants, compliance rose from three of 16 (18.75%) infants screened for ROP according to the standard of care, to nine of 11 (82%) infants screened for ROP according to the revised standard. This increase in compliance appears to be due to adherence to guidelines recommended in an earlier study, which included increasing staff awareness of the standard of care, designating a person to schedule and track infants who fit the screening criteria, and including the need for ROP screening on the admission and discharge summary.