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Biomedical subjects

H M Hittner

Publications and source records attributed to H M Hittner.

14 recordsLinked to original sources
PubMed1979

Aniridia caused by a heritable chromosome 11 deletion.

A child with aniridia, multiple anomalies, severe failure to thrive, and severe psychomotor retardation is shown to have a syndrome similar to, though more severe than, other patients with overlapping deletions of the short arm of chromosome 11 (Pediatrics 64:604, 1978). Her deletion (46,XX,del [11p] [pter yields p14::p11.3 yields qter]) was derived from her mother, who has a chromosome 11 shift (46,XX,der [11] [pter yields p14::p11.3 yields q22::p14 yields p11.3::q22 yields qter]). The significance of del (11p) in the aniridia-Wilms' tumor association is discussed, and the del (11p) basis for aniridia is compared with other genetic bases for aniridia.

Abnormalities, Multiple↗
PubMed1979

Scleral buckling in 2 1/2- to 11-month-old premature infants with retinal detachment associated with acute retrolental fibroplasia.

The authors' experience over the past five years in the cryosurgical management of retinal detachment in ten eyes of eight premature infants with retrolental fibroplasia, whose ages at the time of detachment surgery ranged from 2 1/2 months to 11 months with an average of 5 1/2 months, is reported. Postoperative follow-up, ranging from eight to 61 months, has revealed that scleral buckling was successful in six eyes (60%). The ERG responses are slow to become established postoperatively, and VER testing is of questionable value in these cases.

Age Factors↗
PubMed1979

Anterior segment abnormalities in cicatricial retinopathy of prematurity.

Abnormalities that occur in the anterior segments of patients with retinopathy of prematurity have been studied in 72 eyes of 36 patients. The anterior chamber depth, the placido disc image on the cornea, the distortion of polarized light by corneal stress, and keratometry readings were recorded. There was a highly significant correlation between anterior chamber depth, retinopathy of prematurity, and keratometry readings (p less than .001). These findings emphasize the importance of careful follow-up examinations of the anterior segment in retinopathy of prematurity because cataracts, band keratopathy, acute hydrops, and angle-closure glaucoma can progressively occur as complications.

Adolescent↗
PubMed1979

Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas.

This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat], and in his sister the relatively modest effects of triplication of the mid-portions of 13q are demonstrated [46,XX,ins(12;13) (12pter leads to 12p11.2: :13q22.1 leads to 13q12.5: :12p11.2 leads to 12qter)mat]. Qualitative and quantitative gene marker studies and chromosomal staining techniques to differentiate timing of DNA replication failed to indicate functional gene changes about the breakpoints.

Child, Preschool↗
PubMed1979

Lens dislocation after strabismus surgery.

A case of lens dislocation complicating strabismus surgery is described. This complication following scleral perforation is extremely rare. The lens dislocation occurred in the direction of the connective tissue overlying the perforation site to which multiple cryoapplications had been made. Irrigation and aspiration of the clear lens followed by discission of the lens capsule was necessary because of progressive lens dislocation resulting in profound amblyopia. Accurate aphakic optical correction of the involved eye combined with vigorous occlusion of the fellow eye resulted in excellent visual acuity for both eyes. Cosmetic strabismus surgery was then performed. Continued intermittent occlusion of the fellow eye, combined with continued constant aphakic optical correction of the affected eye will be required. The affected eye will be carefully followed for the long-term complication of retinal detachment associated with connective tissue traction.

Amblyopia↗
PubMed1979

Scleral buckling in 2 1/2 to 11-month-old premature infants with retinal detachment associated with acute retrolental fibroplasia.

The authors report their experience over the past 5 years in the cryosurgical management of retinal detachment in 10 eyes of 8 premature infants with retrolental fibroplasia, whose ages at the time of detachment surgery ranged from 2 1/2 months to 11 months, with an average of 5 1/2 months. Postoperative follow-up, ranging from 8 to 61 months, has revealed that scleral buckling was successful in 6 eyes (60%). The authors have found that ERG responses are slow to become established postoperatively, and have concluded that VER testing is of questionable value in these cases.

Age Factors↗
PubMed1977

Assessment of gestational age by examination of the anterior vascular capsule of the lens.

The disappearance of the anterior vascular capsule of the lens (pupillary membrane was found to be useful in the preterm infant to estimate accurately gestational age between the twenty-seventh and the thirty-fourth weeks. Before the twenty-seventh week, the cornea was to opaque to allow good visualization of this vascular system. After the thirty-fourth week, these vessels had generally atrophied completely. One hundred infants between 27 and 34 weeks' gestational age as assessed by the Dubowitz scoring system were studied with the direct ophthalmoscope following dilatation of the pupil. Disappearance of the anterior vascular capsule was arbitrarily divided into four grades. The correlation between gestational age and the grade of anterior vascular capsule was found to be highly significant (p less than 0.001).

Atrophy↗
PubMed1976

Optic nerve manifestations of human congenital cytomegalovirus infection.

A Latin American male and a white female infant who had a cytomegalovirus infection on the first day of life had unilateral optic nerve hypoplasia. A white male infant who had cytomegalovirus isolated at 5 weeks of age had a unilateral partial coloboma of the optic nerve. A 4-month-old black infant with cytomegalovirus infection diagnosed at 2 days of age had a unilateral complete coloboma of the optic nerve associated with microphthalmia. Optic nerve involvement was an important manifestation of this disease.

Child, Preschool↗
PubMed1975

Dominant cone-rod dystrophy.

Six generations of a family were studied extensively allowing the description of an autosomal dominant dystrophy of both rods and cones. The dystrophy is characterized by onset between ages 6 and 8 with gradual decrease in vision and progression to the point of no light perception. Abnormalities of color vision, visual field, refraction, fixation behavior, fundus appearance, fluorescein angiography, electroretinography, electrooculography and dark adaptation are presented. The importance of this family in the classification of inherited retinal dystrophies is stressed and the need for an expanded classification is discussed. The role of genetic counseling is stressed in such severe diseases.

Adult↗
PubMed1975

Ceroid-lipofuscinosis (Batten disease). Fluorescein angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy.

Three children with ceroid-lipofuscinosis and their mother wer investigated fluorescein angiographically and electrophysiologically after definitive diagnosis of the oldest child had been made from a brain biopsy specimen studied biochemically, histopathologically, and ultrastructurally. The diagnostic features of the two classes of familial amaurotic idiocy (the gangliosidoses and the ceroidlipofuscinoses) are reviewed with emphasis on the importance of the fundus picture and fluorescein angiographic study in differentiating the two classes of disease and in identifying affected siblings.

Adult↗
PubMedDate not supplied

Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome.

A syndrome consisting of colobomatous microphthalmia, heart disease, abnormalities of the external ear with associated hearing loss, and mental retardation is described. Nine children and one adult were evaluated. There is not race or sex predilection. The syndrome can be heritable, as shown by a mother and daughter who were among the patients. In addition to the four major components enumerated, multiple other anomalies may be associated. In some cases, the syndrome may occur incompletely. Whenever two or more of the four components are recognized, the other systems usually affected should be investigated.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital retinal disinsertion syndrome.

The congenital retinal disinsertion (CRD) syndrome refers to cases of retinal detachment with disinsertion and may be divided into two groups. Group 1 reported by Hovland and co-workers includes healthy children with bilateral detachments and giant tears nasally, lens coloboma, and center anterior and posterior cortical lens opacities. Group 2 includes healthy children with a unilateral detachment often associated with microphthalmos and catatract. The opposite eye may show a combination of changes including small central anterior and posterior cortical lens opacities, lens colobomas, and paving-stone degeneration. The patients may have an increased risk of developing a detachment in the second eye, and some of these eyes have been treated with cryopexy. Seven patients belonging to group 2 have been described and four of these had unilateral cataract and microphthalmos. Two other patients had some degree of unilateral microphthalmos. Small central anterior or posterior cortical lens opacities were found in five eyes, and lens colobomas were found in two eyes. Six out of seven patients had varying degrees of paving-stone degeneration temporally in the nondetached eye. The CRD syndrome was familial in two patients who were sisters. Pathologic studies were done in the eyes of three patients.

Child↗