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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a family with some features of the Pseudo-Ullrich-Turner-Syndrome, so-called Noonan-Syndrome. Besides low-set ears, microgenia, short neck, pterygium colli, low-anterior hair line and small stature as well as partial scoliosis, partial cubitus valgus and camptodactylia, retinal detachment, disturbances of the eye motility, keratoconus, unilateral ptosis and antimongoloid slant of the palpebral fissures in different expression are described. The caryotype was normal. Some of the features can be seen within at least 2 generations of the family. It seems to be an autosomal genetic mode of transmission. Differences and common characteristics in comparison to the literature are shown. Differential diagnostic aspects are described. A definite relation to a syndrome already described is not possible.
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PMID:[Ocular symptoms in a family with pseudo-Ullrich-Turner syndrome]. 178 62

Leber's congenital amaurosis is a hereditary clinical disorder that may be associated with several different diseases. This study consists of a retrospective review of 43 cases. Twenty of our patients had fundus appearances that resembled retinitis pigmentosa. Five had normal-appearing fundi. The remainder had other, previously reported fundus abnormalities, with the exception of two patients who demonstrated a new fundus finding, a nummular pigmentary pattern. Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus.
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PMID:Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. 382 12

We report on 44 patients (18 with additional affected family members), with congenital distal limb contractures identified from a large study of over 350 patients with congenital joint contractures. Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type 1, with the predominant manifestations of autosomal dominant inheritance; tightly clenched fists at birth, with medially overlapping fingers, ulnar deviation, and camptodactyly in adults; and positional foot deformities. Contractures at other major joints are variable. There are no associated visceral anomalies; intelligence is normal. There can be marked intrafamilial and interfamilial variability. Twenty-two propositi with similar distal contractures had additional findings and were classified into five subcategories of distal arthrogryposis (type IIA-E). Among type II patients cleft palate, cleft lip, small tongue, trismus, ptosis, epicanthal folds, keratoconus, short stature, scoliosis, a unique hand position, and dull normal intelligence were seen. These characteristics were seen in various combinations and patterns and allowed sorting into groups that were the basis for the categorization. The remaining eight propositi were recognized to have previously described conditions with distal contractures and autosomal dominant inheritance, ie, the Freeman-Sheldon syndrome, trismus-pseudo-camptodactyly syndrome, congenital contractural arachnodactyly, and familial camptodactyly. Pathogenetically we postulate similar underlying defects of abnormal tendon attachments, attenuation, and absence; careful nosologic comparisons are important for prognostic counseling and habilitative management.
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PMID:The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 703 11

The results of a retrospective analysis of 49 eyes (40 patients) that underwent penetrating keratoplasty for keratoconus are presented. All grafts had the same size trephine for both host and donor corneas. Ninety-eight per cent of eyes achieved a post-operative visual acuity of 6/12 or better; 43% of eyes attained this level of acuity unaided, although more than half of these required spectacles or contact lenses to reach their best corrected acuity. The average post-operative spherical ametropia was -0.5 dioptre (SD 2.97 dioptres) and the average post-operative cylinder was -3.8 dioptres (SD 2.63 dioptres). Three eyes (6%) required keratorefractive surgery to reduce astigmatism. Wound integrity was satisfactory using the same (size) trephine for both host and donor, with no patient suffering a post-operative wound leak or iris prolapse. The reduction of post-operative myopia and astigmatism is discussed.
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PMID:The use of the same size host and donor trephine in penetrating keratoplasty for keratoconus. 795 36

Therapeutic lamellar keratoplasty was performed using corneas obtained from keratoconus patients undergoing penetrating keratoplasty. The corneas used in this series were stored in preservation solution for 7 to 59 days (average, 27.8 days) and submitted to surgery. The recipients were three patients with recurrent pterygium, one with primary pterygium, one with corneal perforation and iris prolapse due to fungal corneal ulcer, and one with limbal dermoid. Graft rejection developed in two cases postoperatively, but they were successfully treated with steroid therapy. During the entire period of clinical observation, there was no sign of recurrence of pterygium. In the case of the fungal corneal ulcer, the site of perforation healed quickly and the donor cornea maintained its transparency. A marked cosmetic improvement was achieved in the case of the limbal dermoid. Obtaining corneas from keratoconus patients and storing them for a short period is a potentially useful application for therapeutic lamellar keratoplasty.
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PMID:[Therapeutic keratoplasty using corneas obtained from keratoconus patients]. 895 96

Sleep apnea syndrome is characterized by recurrent complete or partial upper airway obstructions during sleep and recognized as an important risk factor for cardiovascular and cerebrovascular diseases. Several eye diseases have been associated with sleep apnea syndrome. Due to floppy eyelids often a chronic conjunctivitis occurs. A leaking mask used for apnea treatment may also induce a conjunctivitis. The lids may show an upper lid ptosis, lower lid ectropium, blepharochalasis, or trichiasis. Corneal findings include infectious keratitis, dry eye, recurrent erosion, keratoconus, and progressive endotheliopathy. Several optic neuropathies also seem to be associated with sleep apnea syndrome.
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PMID:[Eye diseases in sleep apnea syndrome]. 1121 89

We describe four members spanning three generations of a Caucasian family affected with distal arthrogryposis (DA). Based on Hall's original classification, we have placed our family under type IIB and present previously unreported ophthalmic features. All the members had different degrees of ophthalmoplegia, ptosis, astigmatism, and strabismus. Other findings in affected family members included keratoconus in the index patient, which was associated with abnormal electron microscopy of the affected cornea and increased thickness of the central cornea, small axial length of the globe and choroidal folds in the others.
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PMID:Distal arthrogryposis type IIB: unreported ophthalmic findings. 1627 94

The primary joint hypermobility syndrome (pJH) is an overlap disorder of connective-tissue dysplasias, which incorporates features seen in the Marfan syndromes (MFS), Ehlers-Danlos syndromes (EDS), and osteogenesis imperfecta. Patients with pJH usually present arthralgia, back pain, soft-tissue lesions, recurrent joint dislocation, or subluxation. Extraarticular features may include, e. g., striae cutis, keratoconus, easy bruising, mitral valve prolapse, aortic incompetence, aneurysms, pneumothorax, hernia, urinary incontinence, and pelvic floor prolapse. Due to the high frequency of critical dissection and rupture, the early recognition of rare life-threatening complications such as dilatation of the aortic root and aneurysms is important. Therefore, patients (and their family members) with pJH should also be examined for life-threatening features seen in MFS and EDS.
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PMID:[Concomitant diseases in primary joint hypermobility syndrome]. 1549 74

Astigmatic changes have been shown to occur after ptosis repair due to the altered vector forces on the underlying cornea from the repositioned upper eyelid. The astigmatic change is usually transient, but it may affect a patient's vision for at least the first few months after surgery. The authors present a case of a patient who underwent ptosis repair and subsequently developed postoperative decline in best-corrected visual acuity due to previously undiagnosed keratoconus. The patient's irregular astigmatism seems to have been masked by the ptotic upper eyelid, which we postulate to have acted similar to a stenopaic slit. Correction of the upper eyelid ptosis unveiled previously asymptomatic irregular astigmatism including vertical coma, leading to alteration in the optical wavefront and resultant image degradation.
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PMID:Keratoconus unmasked by unilateral ptosis repair. 2156 40

Although considerable recent work on hereditary eye diseases in Tasmanian families has been published, much of this depended on a century of meticulous pedigree collection by earlier clinical researchers. This article reviews some of the historical papers and the importance they have played in gene discovery and understanding of ophthalmic genetics. Tasmanian families have contributed to the identification of genes for X-linked megalocornea, Leber's hereditary optic neuropathy, retinitis pigmentosa, congenital cataract, ptosis, keratoconus, glaucoma and myopia. The true value of the Tasmanian pedigrees will be realized with the translation of genetic discoveries into early diagnosis and treatment for these eye diseases.
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PMID:Genetic eye research in Tasmania: a historical overview. 2204 74


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