The syndrome of congenital unilateral hyperfunction of the inferior oblique muscle: clinico-pathogenetic variants

Examination of 21 children with unilateral congenital paresis of superior oblique muscle and of 50 children with unilateral hyperfunction of inferior oblique muscle has shown that both forms of early squint have a picture of the same syndrome of oblique muscles disfunction as a primary congenital defect of muscular balance. A constant sign of the syndrome is unilateral hypertropia of adduction, disappearing or sharply reducing in abduction of the upward deviated eye, as well as horizontal squint of a convergent type, more frequently esotropia, nonaccommodative or partially accommodative, accompanied by a V-sign. It is proposed to name this syndrome as "syndrome of congenital unilateral hyperfunction of inferior oblique muscle".     

Tubulointerstitial nephritis and uveitis (TINU) syndrome: a case report and review of the literature

Purpose: We aim to describe the first case of tubulointerstitial nephritis and uveitis (TINU) syndrome reported in Scandinavia and to underline the importance of the syndrome, which should be better known among ophthalmologists. Methods: We report an 11‐year‐old boy who was admitted to hospital because of general fatigue and weight loss. Blood tests showed renal insufficiency and a renal biopsy revealed acute tubulointerstitial nephritis. One week after admission the patient developed transitory blurred vision and flickering shadows in the left eye. Slit‐lamp examination revealed bilateral anterior non‐granulomatous uveitis and TINU syndrome was diagnosed. Results: Because of renal insufficiency the patient was treated with systemic prednisone 50 mg/day for 3 weeks. Evolution was favourable, and prednisone was tapered over 10 weeks. Uveitis was treated with topical steroid with good effect. The only complication after 18 months of follow‐up was transitory cushingoid aspect. Conclusions: Tubulointerstitial nephritis and uveitis syndrome is a rare syndrome that is probably underdiagnosed in clinical practice. Co‐operation between ophthalmologists and nephrologists/paediatricians is crucial for early diagnosis and instigation of treatment. Uveitis may occur before tubulointerstitial nephritis or the renal symptoms may be so mild that the patient is unaware of them. Therefore, ophthalmologists play an important role in the initial discovery of patients with TINU syndrome. Tubulointerstitial nephritis tends to be self‐limiting, whereas uveitis tends to relapse and recurrences tend to be more severe than the initial uveitis. Therefore, the patient must be ophthalmologically monitored very carefully.     

The Stickler syndrome: case reports and literature review.

BACKGROUND: Stickler syndrome is a progressive autosomal-dominant connective tissue disorder with numerous ocular and systemic manifestations. Ocular abnormalities include: retinal detachment, glaucoma, premature cataracts, high myopia, optically empty vitreous cavities, and retinal pigmentary changes. Systemic signs include premature osteoarthritis and hearing loss, as well as numerous skeletal and facial malformations, such as maxillofacial hypoplasia and cleft palate. While many affected patients are diagnosed as children who exhibit obvious skeletal abnormalities, diagnosis can be delayed due to variable expressivity. In some cases, systemic problems may be mild or nonexistent. Thus, Stickler syndrome should be considered in the differential diagnosis of any patient who manifests a strong family history of premature cataracts, glaucoma, or retinal detachment. CASE REPORTS: Three patients representing three different generations within the same family manifested severe ocular manifestations of Stickler syndrome, and minimal systemic involvement: a 56-year-old woman, her 25-year-old son, and the first patient's 8-year-old grandson. CONCLUSIONS: Our cases highlight the need for appropriate vigilance in examining patients with a strong family history of common ocular disorders such as cataract, glaucoma, and retinal detachment. By recognizing the ocular and sometimes subtle systemic signs of Stickler syndrome, optometrists can play a vital role in limiting vision loss and improving the quality of life of affected patients and family members.     

Duane's retraction syndrome: literature review.

BACKGROUND: Duane's retraction syndrome (DRS), also known as Stilling-Turk-Duane syndrome, is defined as a congenital miswiring of the lateral and medial recti muscles, resulting in an impaired ocular motility syndrome that includes palpebral fissure narrowing. The incidence of DRS is approximately 1% of the total cases of strabismus. Eighty percent of cases are unilateral and characterized by either limited abduction, limited adduction, or both. CASE REPORT: A 21-year-old man came to the clinic for a routine ocular examination without symptoms. A review of the history uncovered the presence of congenital, type I Duane's retraction syndrome. The examination demonstrated orthophoria in primary gaze, an abduction deficit O.S., and left globe retraction with palpebral fissure narrowing on right gaze O.S. MANAGEMENT: In most cases of DRS the eyes are straight in primary position and there is no amblyopia. Amblyopia, when present, is usually the result of anisometropia and not strabismus. Because our patient had no symptoms of diplopia in primary gaze (orthophoria) or in attempted right gaze (due to suppression of the left eye with abduction), prismatic and/or surgical management were not indicated, since the patient was free from binocular and cosmetic abnormalities. CONCLUSION: DRS is characterized by abnormal development of the cells in the abducens nucleus (CN VI), resulting in restricted or absent abduction and erroneous innervation of the lateral rectus by branches emanating from oculomotor nuclei (CN III). Management may include orthoptics, surgery, or monitoring.     

Amblyopia of the fellow eye in assumed unilateral congenital fibrosis syndrome

BACKGROUND: Amblyopia of the ptotic eye in spite of head posturing and of the fellow eye in ptosis with motility disorders are well known. We emphasize the importance of exact ophthalmological and orthoptic examinations to avoid amblyopia in both ptosis and fellow eye, even in cases of mild ptosis, especially if they are combined with motility disorders. PATIENT: A 5 year-old girl presented to our outpatient clinic because of ptosis of the left eye and hypertropia of the right eye. Visual acuity of the right eye was 0.32 and of the left ptotic eye 1.0. Cycloplegic retinoscopy showed + 2.0 sphere in both eyes. Ocular motility showed a mild reduction of elevation of the left eye in ad- and abduction. This led to the diagnosis of congenital fibrosis syndrome of the inferior rectus muscle of the left eye. Due to the preferred fixation with the left ptotic eye and the consecutive deviation of the fellow eye amblyopia of the right eye had developed. Occlusion therapy of the left eye resulted in an improvement of visual acuity of the right eye to 0.9 and centralisation of fixation within one month. CONCLUSION: Even children with mild ptosis, especially in combination with motility disorders, require a complete ophthalmological and orthoptic examination to avoid amblyopia also of the fellow eye.     

Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies

Lenz microphthalmia is a syndrome of microphthalmia accompanied by multiple congenital anomalies, none of which is unique to the syndrome. The patient described in this paper had, in addition to the microphthalmia, dysmorphic facies and dental anomalies, several features not previously described in this syndrome: synophrys, an isolated cleft of the soft palate, a webbed neck and sacral pits. Other congenital syndromes associated with microphthalmia (oculodentodigital dysplasia, cryptophthalmos and the 10q+ syndrome) were excluded. The frequency of the anomalies described in 22 case reports is presented as a guide to diagnosis in isolated cases.     

Susac syndrome: case reports and review of the literature

BACKGROUND: Susac syndrome is a rare disease of unknown pathogenesis. It consists of retinal arterial occlusion, hearing loss and encephalopathy (triad). PATIENTS: The features of two cases of this syndrome are presented. CONCLUSION: A high percentage of patients do not have the clinical triad at the time of onset of symptoms and, therefore, this disease may be under-diagnosed. Any patient with unexplained encephalopathy should thus be examined by an ophthalmologist and have an audiogram performed.     

Surgery in unilateral congenital cataract caused by persistent fetal vasculature or minimal fetal vascular remnants: age-related findings and management challenges

PURPOSE: To document in detail the surgical management challenges over the wide spectrum of persistent fetal vasculature syndrome (PFVS). SETTING: Department of Ophthalmology, University of Vienna, Medical School, Vienna, Austria. METHODS: As part of an ongoing prospective clinical trial of the treatment and etiology of pediatric cataract, a subgroup of 31 children with unilateral cataract was defined. Standard surgical techniques were used based on age. Group 1 comprised infants between 0 and 1.5 years; Group 2, preschool children between 1.6 and 5.9 years; and Group 3, school-aged children between 6 and 16 years. Additional surgical procedures were used based on the degree of PFVS. RESULTS: All 31 eyes with unilateral cataract showed signs of PFVS. Characteristic features were found in 75% of eyes in Group 1, 8% of eyes in Group 2, and 67% of eyes in Group 3. Minimal fetal vascular remnants were found in 92%, 25%, and 33%, respectively. Correct diagnosis of PFVS was made preoperatively in 56% of eyes in Group 1, 8% in Group 2, and 67% in Group 3. Surgical procedures in addition to standard age-related techniques were necessary in all eyes with unilateral cataract. CONCLUSIONS: Results indicate that varying degrees of PFVS are a frequent cause of unilateral congenital cataract. Most severe cases were in infants, and preschool children were usually mildly affected. Vitreoretinal complications may lead to challenges in the surgical management in infants. In preschool children, cataract surgery must be performed in a guarded fashion because of the high risk for preexisting posterior capsule breaks due to minimal fetal vascular remnants.     

Ocular involvement in acute febrile neutrophilic dermatosis (Sweet syndrome): new cases and review of the literature

Sweet syndrome (acute febrile neutrophilic dermatosis) is a dermatologic disorder with accompanying features of systemic inflammation. It is commonly associated with conjunctivitis, but a variety of types of ocular inflammation have been reported. The ocular manifestations of Sweet syndrome include periorbital and orbital inflammation, dacryoadenitis, conjunctivitis, episcleritis, scleritis, limbal nodules, peripheral ulcerative keratitis, iritis, glaucoma, and choroiditis. The ocular inflammation appears concurrently with skin lesions. An overview of Sweet syndrome is presented with a review of cases in the literature describing ocular involvement. We report two additional cases of ocular involvement, one with conjunctivitis and a second with iritis, peripheral ulcerative keratitis, and episcleritis. Of the 20 cases, half were bilateral. Thirteen cases occurred in the setting of classical or idiopathic Sweet syndrome and seven in association with malignancy. Biopsies of ocular tissue were infrequent, but, in the seven cases where ocular tissue was analyzed, the histopathology was similar to that of the cutaneous lesions. The ocular complications of Sweet syndrome resolved with systemic administration of corticosteroid or cyclosporine. Topical ocular steroid treatment was frequently used in conjunction with oral steroid but may not have been valuable.     

Intraocular pathology of trisomy 18 (Edwards''s syndrome): report of a case and review of the literature.

The ophthalmic histopathology is detailed in a case of trisomy 18 (Edwards's syndrome). In addition to the ocular pathology already reported, previously unreported findings of iris stromal hypoplasia, abnormal lens shape, and decreased ganglion cells in the retina are noted. The ophthalmic histopathology associated with this syndrome and the relationship of several genetic disorders to their ocular manifestations are discussed.     

Michels syndrome: The first case report from India and review of literature

A 2-year 7-month-old girl born out of a consanguineous marriage, presented at our facility with clinical features characterized by the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus in association with hypertelorism, cleft palate and craniosynostosis. This constellation of features is suggestive of Michels syndrome. At the time of writing this report, there were only ten reported cases worldwide and to the best of our knowledge, there have been no published reports from India.     

Persistent fetal vasculature and minimal fetal vascular remnants: a frequent cause of unilateral congenital cataracts

PURPOSE: To determine the significance of persistent fetal vasculature (PFV) and remnants of fetal vessels in the pathogenesis of pediatric unilateral cataracts. STUDY DESIGN: Prospective observational case series. PARTICIPANTS: Thirty-one children with unilateral cataract aged between 2 weeks and 15 years. METHODS: As part of an ongoing prospective clinical trial concerning treatment and etiology of pediatric cataracts, a subgroup of 31 children with unilateral cataracts was defined. The affected eyes received preoperative and intraoperative biomicroscopic examinations to identify characteristic features of PFV and even minimal fetal vascular remnants (MFVRs) at the level of the posterior lens capsule and anterior hyaloid face. In eyes with MFVRs, 3 different severity degrees were assumed, according to different posterior capsule abnormalities: mild, A; moderate, B; and severe, C. All observations were documented on video and analyzed in relation to age (group I, infants between 0 and 1.5 years; group II, preschool children between 1.6 and 5.9 years; group III, schoolchildren between 6 and 16 years). MAIN OUTCOME MEASURES: Frequency and morphology of characteristic features of PFV and MFVRs of the posterior lens capsule/anterior hyaloid face, lens clouding, and microphthalmos. RESULTS: All 31 eyes with unilateral congenital cataracts showed signs of PFV syndrome (100%). Characteristic features of PFV were found in 75% of group I eyes, in 8% of group II eyes, and in 67% of group III eyes. Minimal fetal vascular remnants were found in 25% of group I eyes (severity degree C in all eyes), in 92% of group II eyes (severity degree A in 36.4%, B in 27.2%, and C in 36.4%), and in 33% of group III eyes (severity degree A). Associated microphthalmos was found in all eyes in groups I and III and in 73% of group II, whereas axial lengths were equal in both eyes in 27% of group II children with MFVRs. CONCLUSIONS: Varying degrees of PFV seem to be a frequent cause of unilateral congenital cataracts. Although characteristic features of PFV occurred mainly in infants, eyes of preschool children were usually very mildly affected, showing MFVRs that were detected only by careful observation during surgery. Abnormalities of the central part of the posterior capsule, such as a translucent opacity or a lenticonic area leading to a spontaneous hole during lens aspiration, may be caused by minimal remnants of PFV.