Congenital ptosis and amblyopia.

PURPOSE: To investigate the incidence and causes of amblyopia in congenital ptosis. METHODS: The frequency and causes of amblyopia were evaluated in 83 eyes of 72 patients with congenital ptosis. Patient ages ranged between 10 months and 70 years. Amblyopia was defined as best-corrected visual acuity of 0.7 or less. After a complete ophthalmologic examination, the amount of ptosis and levator function was determined and the following amblyogenic factors were identified: ametropia, anisometropia, and strabismus. In cases with no other reason for amblyopia, stimulus deprivation amblyopia due to ptosis was assumed. RESULTS: The amount of ptosis was mild in 5 (6%), moderate in 26 (31%), and severe in 52 (63%) of 83 eyes with congenital ptosis. Strabismus was present in 17 (20%) eyes. Visual acuity could not be determined in 10 of 83 eyes with ptosis in children younger than 4 years. The overall incidence of amblyopia in the remaining 73 eyes was 48%. Of those patients with amblyopia, 54% had refractive errors such as anisometropia or ametropia, 20% had strabismus with or without refractive errors, and 26% had amblyopia solely attributed to ptosis. When all eyes with ptosis were included, the rate of stimulus deprivation amblyopia was 12% and all of these eyes had severe ptosis. CONCLUSION: Early detection and treatment of amblyogenic factors such as refractive errors and strabismus is recommended and, when the pupillary axis is occluded with severe ptotic eyelids, surgery should be performed as soon as possible to prevent stimulus deprivation amblyopia.

Aarskog syndrome: a case report and literature review.

BACKGROUND: Aarskog syndrome (facial-digital-genital syndrome) is an X-linked inherited disorder that causes multiple limb and genital abnormalities. Although ophthalmic manifestations are noted rarely, findings may include optic nerve hypoplasia, retinal vessel tortuosity, deficient ocular elevation, hyperopia, and anisometropia. CASE REPORT: An 8-year-old boy with Aarskog syndrome presented with complaints of letter reversals, letter additions, and an occasional "crooked" eye when he became frustrated or tired. He was currently enrolled in a special education program because of poor academics. The examination found anisometropic amblyopia, superior ophthalmoplegia, and high hyperopic astigmatism. Glasses were prescribed, and further binocular, accommodative and perceptual testing will be performed once adaptation has occurred. CONCLUSION: Knowledge of this rare condition can benefit the practitioner as well as the patient. An understanding of the associated conditions will aid and simplify the examination process. A search of the English-language literature is reported.

Amblyopia and congenital esotropia. Visually evoked potential measurements.

Amblyopia in patients with congenital esotropia was studied using visually evoked cortical potentials. In only four of 31 patients with esotropia and no abducting nystagmus was amblyopia detected before surgery. Postoperatively, 19 of these patients had amblyopia. In contrast, nine of the 11 patients with esotropia and nystagmus exhibited amblyopia before surgery. We conclude that amblyopia occurs infrequently in patients with congenital esotropia and no nystagmus until surgery reduces the angle of deviation and breaks down the cross-fixation reflex.

Congenital trigeminal anesthesia in two siblings and their long-term follow-up.

PURPOSE: To alert ophthalmologists to congenital trigeminal anesthesia as a cause of corneal scarring and amblyopia and its effective treatment with tarsorrhaphies. METHODS: Case reports. A 2-month-old infant presented with bilateral corneal erosions and complete corneal anesthesia. Her sister presented at age 3 years with a corneal ulcer and corneal hypoesthesia (sensation markedly decreased). The father and paternal grandmother of the siblings also had corneal hypoesthesia. RESULTS: Further investigation of the infant revealed bilateral hearing loss, swallowing difficulties, and decreased sensation in the trigeminal nerve distribution. A diagnosis of congenital trigeminal anesthesia was made. The corneal erosions of the patient resolved with bilateral two-thirds width tarsorrhaphies. The girl continues to do well now at 10 years of age with ocular lubrication and superficial corneal scar removal. Her older sister initially required antibiotic ointment for her corneal ulcer but now requires only ocular lubrication for congenital trigeminal anesthesia. CONCLUSION: This study describes the earliest reported use of tarsorrhaphies in an infant with congenital trigeminal anesthesia. The presence of this condition in her sister and relatives makes it one of the few reports of congenital trigeminal anesthesia in more than two generations. Early recognition of this condition is essential in the preservation of useful vision.

Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome.

The Aarskog (facial-digital-genital) syndrome is an X-linked disorder in which short stature is accompanied by hypertelorism, digital anomalies, and shawl scrotum. Except for hypertelorism and blepharoptosis, ophthalmic abnormalities have been rarely noted in this condition. We examined four patients who had Aarskog syndrome and unilaterally or bilaterally decreased vision on initial examination. Three family members had V-pattern esotropia, latent nystagmus, inferior oblique overaction, and amblyopia. A fourth patient had bilateral blepharoptosis and severe astigmatism. Other ocular features included hyperopia, anisometropia, deficient ocular elevation, blue sclerae, and posterior embryotoxon. These findings underscore the need for ophthalmic examination in asymptomatic patients with Aarskog syndrome to rule out treatable causes of visual loss.

Brown's syndrome: fusion status and amblyopia.

Many children with Brown's superior oblique tendon sheath syndrome do not have full fusion and stereopsis. Of 28 such patients 8 failed to demonstrate orthophoria in their assumed head position, and many continued to have a head tilt with one or the other eye patched. All eight showed an appropriate vertical deviation, but in addition six showed esotropia and two exotropia. The lack of fusion in their assumed head position led to amblyopia in seven patients.

Unilateral congenital ptosis and amblyopia.

Amblyopia was detected in 15 of 55 children with unilateral congenital ptosis. Anisometropia was the main cause of the amblyopia in 10 cases, and strabismus alone was the cause in 2 cases. In three cases amblyopia developed after ptosis surgery.

[Amblyopia, refractive errors and strabismus in congenital ptosis]. / Amblyopie, Refraktionsfehler und Strabismus bei kongenitaler Ptosis.

The incidence of amblyopia in the normal population is 2-6%, whereas among patients with congenital ptosis it can be as high as 50%. We reviewed 146 cases of congenital ptosis in patients aged between 5 months and 15 years and compared them to a control group of 34 age- and sex-matched patients. In 78 children (156 eyes) reliable optotype visual acuity could be obtained. Fifty-three eyes (34%) were amblyopic. Ametropia was responsible for 34% and anisometropia for 28.3% of the amblyopia cases. In 25.4% of cases strabismus, and in 11.34% stimulus deprivation, was the reason for the development of amblyopia. Children with congenital ptosis should have retinoscopy done in cycloplegia, and refractive errors should be corrected early. Controlled patching therapy should also be started early. Since stimulus deprivation amblyopia is rare, congenital ptosis need not be corrected early in life.

[Long-term functional results of unilateral congenital cataract treatment with early surgery: 20 case studies]. / Résultats fonctionnels à long terme du traitement des cataractes congénitales unilatérales opérées précocement. A propos de 20 cas.

PURPOSE: Evaluation of the long-term functional results of the treatment of unilateral congenital cataract (UCC) surgery before age 1. MATERIAL AND METHODS: Retrospective analysis of 20 consecutive cases of UCC operated on before age 1 and followed by the same medical team during the entire treatment period. Lens implantation adopted when surgically possible (15 cases) and medical treatment of amblyopia are described. Functional results are analyzed with a mean follow-up of 6 years (3.5-11 years) and compared with those of 31 similar cases operated on between 1 and 8 years of age. RESULTS: Four cases had less than 0.1 of final visual acuity, 8 cases remained between 0.1 and 0.4, and 8 cases obtained at least 0.5. Functional results with surgical, refractive, visual, oculomotor, and binocular data of all cases are described. Amblyograms are presented. DISCUSSION: Age at surgery, postoperative delay, type of cataract, and refractive progression were not found to be decisive in final results. We discuss the factors that seem important in the visual outcome and consequences on the sound eye of this heavy amblyopia treatment. In addition to early treatment, the absence of surgical complications and the continuity of patching, the quality of the initial organization of therapeutic strategy, and the continuity of the follow-up seem to be major factors for the success of long-term treatment. Treatment and follow-up should be centralized around a specialized team that will help the local team during the entire length of the treatment.

[The therapeutical approach in the unilateral congenital cataract of the child]. / Atitudinea terapeutica în cataracta congenitala unilaterala la copilul mic.

The management of pediatric cataracts is, by far, more complex than the management of cataracts in adults and depends not only on deterioration of visual acuity, but also on the status of the other eye, the general health of the child, the motivation and the financial situation of the parents and last, but not least, on the surgeons' experience and skill, and the technical support. The therapeutically approach involves: the preoperative evaluation to establishes the indication and the timing of surgery the adaptation of the surgical technique for each case the choice of the aphakic correction the visual rehabilitation in the context of amblyopia management.

[Non-oculomotor eye involvement in Moebius sequence]. / Nichtokulomotorische Augenbeteiligung bei Möbius-Sequenz.

Moebius sequence is a congenital disorder that not only affects the oculomotor system but also the eyes themselves. Ocular involvement might be sight-threatening and needs regular follow-up by an ophthalmologist.

[Rehabilitation on functional amblyopia in Morning Glory Syndrome]. / Rééducation de la part fonctionnelle de l'amblyopie dans un Morning Glory syndrome.

INTRODUCTION: Morning Glory syndrome, characterized by an enlarged dysplasic optic disc with glial tissue, is one of the congenital anomalies of the optic nerve. This syndrome is rare, prevalent in the girls, and generally unilateral. It can be revealed with nystagmus, strabismus, or amblyopia. OBSERVATION: We report the clinical observation of a 2.5-year-old girl, referred for the diagnosis of Morning Glory syndrome in the left eye with severe amblyopia (1/10 Rossano 1/20) and esotropia. This syndrome has associated central nervous system anomalies with a basal encephalocele. Treated with functional amblyopia therapy, visual acuity was 7/10 Rossano 1/2 after 1 year. DISCUSSION: Rehabilitation on functional amblyopia in organic optic nerve anomalies is essential. A child with a Morning Glory syndrome, detected during the period of sensory maturation, must be treated with occlusion therapy, followed by maintenance treatment. This part of the treatment can prevent deep amblyopia. Moreover, regular ophthalmologic follow-up to detect complications of retinal detachment and multidisciplinary follow-up to detect a cytogenetic disease, CHARGE syndrome, or association with endocrine and central nervous system anomalies are necessary. CONCLUSION: The author recommends occlusion therapy for children with Morning Glory syndrome or other organic asymmetric optic nerve anomalies, during the period of amblyopia reversibility. Most patients' vision improves after treatment. This case is an illustration.

[The autologous ipsilateral rotating penetrating keratoplasty: an early surgical procedure to prevent deep irreversible amblyopia in Peters anomaly]. / Die ipsilaterale autologe Rotationskeratoplastik: Eine Möglichkeit der frühen Amblyopieprophylaxe bei Peters'scher Anomalie.

PURPOSE: It is a challenge to prevent irreversible amblyopia in infants suffering from Peters anomaly. In some cases of centrally located corneal opacifications an optical sector iridectomy can not lead to a clear optical axis. The homologous penetrating keratoplasty as early surgical procedure has shown an extremely poor outcome with a high risk of irreversible graft failure. We report on the autologous ipsilateral rotating penetrating keratoplasty in an eight-week-old infant suffering from Peters anomaly. PATIENTS: An autologous ipsilateral rotating penetrating keratoplasty was performed in an eight-week-old infant suffering from Peters anomaly to prevent irreversible amblyopia. RESULTS: After a follow-up time of 8 months we saw a clear graft within the optical axis without any complications in wound healing. We removed the single sutures two months after keratoplasty. Postoperative astigmatism could be corrected first by fitting a special nursery contact lens and after reduction of astigmatism because of suture removal we fitted special nursery glasses. The intraocular pressure remained within the normal range during the follow-up period. CONCLUSION: The autologous ipsilateral rotating penetrating keratoplasty should be considered superior to homologous keratoplasty in infants with Peters anomaly if sector iridectomy is not advisable because of a central corneal opacification. Resulting high refractive errors can be successfully corrected by special contact lens fitting or by nursery glasses.

[Photoscreening for early detection of amblyogenic eye changes]. / Photoscreening zur Früherkennung amblyopieauslösender Augenveränderungen.

BACKGROUND: Congenital and early acquired ocular changes impairing the optic input induce amblyopia when left untreated. Amblyopia treatment must start early to be efficient. Therefore it seems necessary to employ screening tests in preverbal childhood. PATIENTS AND METHODS: The reliability of two commercially available photoscreening devices, the "Visiscreen 100" (Vision Research Corp.) and the "MTI-Photoscreener" (Medical Technology Inc.), was tested. 180 children from a kinder-garten and 120 infants from our outpatient clinic were screened. The results were compared to the findings of a full ophthalmologic and orthoptic examination. RESULTS: The efficacy of the photoscreening depended on the skill of the examiner and on the age of the children tested. The rate of interpretable photographs was 94% in the older group and 63.3% in the infants. The mean sensitivity for detection of amblyogenic factors was 63% in the older and 80% in the infant group. The mean negative predictive value was 90%, and 75%, respectively. CONCLUSION: Modern photoscreening techniques can help to detect amblyogenic factors in early childhood. However, in addition to the non-interpretable photographs, about 20% of the affected children are missed. Therefore, photoscreening cannot be recommended for countries with a high number of ophthalmologists, such as Germany. Instead, an ophthalmologic and orthoptic investigation in early childhood would be preferable.