Down syndrome with bilateral posterior lenticonus
- Mayank Jain ,
- Katkar Amol Rambhau ,
- Shashikant Shetty and
- Perumalsamy Vijayalakshmi
- Paediatric Ophthalmology, Aravind Eye Hospital, Madurai, Tamil Nadu, India
- Correspondence to Dr Mayank Jain; sandymayank@gmail.com
Abstract
We present a case of bilateral posterior lenticonus in a young boy with Down syndrome. Association of posterior lenticonus in Down syndrome is rarely reported in the literature. We have discussed the clinical features and management of this patient at our hospital.
Background
Down syndrome is associated with a variety of ocular abnormalities most common among them are strabismus, refractive errors and impaired accommodation while others are congenital cataracts, keratoconus and nystagmus.1 The overall prevalence of posterior lenticonus is 1–4 in every 100 000 children and most cases are diagnosed between 3 and 15 years.2 Early surgery in the posterior lenticonus helps to prevent visual deprivation amblyopia.3 The presence of posterior lenticonus in Down syndrome is rarely described in the literature. We describe clinical signs and outcomes of a well-documented case of bilateral posterior lenticonus with Down syndrome.
Case presentation
A 2½-year-old male child who was a known case of Down syndrome presented to us with symptoms of frequent blinking of eyes and abnormal head posture for the past 6 months. The child was born to a mother of age 35 years at pregnancy and there was no family history of neurodevelopmental abnormalities or cataract. He had mild deficits in the area of motor skills. The child had mongoloid slant, large tongue, low set ears, clinodactyly and sandal gap (figure 1). The child was able to follow and fixate at both illuminated and non-illuminated targets with the right eye and resisted occlusion of the right eye with occasional fixation from the left eye. The patient was not cooperative for vision assessment with the Teller acuity cards. The right eye had a posterior lenticonus cataract with protrusion of the posterior capsule (figure 2A). The left eye had an absorbed posterior lenticonus cataract (figure 2B). The posterior segment examination was normal. Father and mother were screened and no lenticular changes were seen.
(A) Facial dysmorphism, (B) clinodactyly, (C) sandal gap.
(A) Right eye with a absorbed posterior lenticonus cataract, (B) left eye with posterior lenticonus cataract.
Investigations
The child had an extra 21st chromosome on karyotyping. Two-dimensional echocardiography reported a small patent ductus arteriosus. Ultrasonography of the abdomen and Brainstem Evoked Response Audiometry was normal. Ultrasound biomicroscopy was done to check the integrity of the posterior lens capsule, and the posterior capsule was found to be intact in the right eye with a typical posterior bowing (figure 3). In the left eye, the integrity of the posterior lens capsule could not be made out and rupture of the posterior capsule was suspected.
Ultrasound biomicroscopy of the left eye showing outpouching of the posterior capsule (arrowheads).
Treatment
After obtaining fitness from a cardiologist and paediatrician, the child was planned for left eye cataract surgery under general anaesthesia, intraoperatively absorbed posterior lenticonus cataract was present. After peripheral iridectomy, anterior capsulotomy was done and a posterior plaque was noted which was cut with Vanna’s scissors followed by limited anterior vitrectomy. The patient was left aphakic. After 4 weeks, right eye lens aspiration and limited anterior vitrectomy were performed and the child was left aphakic.
Outcome and follow-up
Refraction was performed and aphakic glasses with bifocals was prescribed after each eye surgery. The child had better visual outcomes postoperatively as he was able to reach for objects.
Discussion
Posterior lenticonus is defined as a localised outpouching of the posterior lens surface with or without lens opacification associated with thinning or absence of posterior lens capsule.4 It is a rare entity described first by Meyer and is mostly unilateral.5 Bilateral posterior lenticonus is less frequent and usually associated with a family history of cataract demonstrating an autosomal dominant or X-linked inheritance.2 6
Posterior lenticonus can be detected as an oil droplet reflex on retinoscopy, localised conical shape of the posterior capsule as seen on slit-lamp microscopy as well as on ultrasonography or ultrasound biomicroscopy.
Associated ocular conditions reported in the literature are amblyopia, strabismus, anterior lenticonus, Duane retraction syndrome, retinoblastoma, coloboma, microphthalmia, persistent fetal vasculature and optic nerve hypoplasia. Systemic conditions associated are hyperglycinuria, Lowe syndrome, pulmonic stenosis, Down syndrome, Pierson syndrome, Pai syndrome, Burnside-Butler syndrome, Oculofaciocardiodental syndrome and ZNF408 mutation.7–12 We present a rare case of a Down syndrome child with bilateral posterior lenticonus with no family history of cataract. There are scattered reports of Down syndrome with posterior lenticonus in literature, but not systematically reported as bilateral.2 13
Medical management of posterior lenticonus is started immediately after detection with aggressive amblyopia therapy.2 14 Surgical management should be considered when lens opacity is significant or vision is progressively deteriorating. The surgical intervention leads to better final visual acuity than the non-surgical cohorts.3 14 The important steps in posterior lenticonus surgery include the following points. Gentle or no hydrodissection is to be done. Aspiration of the peripheral cortex is done before aspirating the central cortex.15 An intraocular lens is preferably implanted in the bag, or in the sulcus if posterior capsular support is poor. However, the eye can be left aphakic and refractive correction can be prescribed with the help of contact lenses or aphakic glasses. The postoperative visual outcomes are usually good with bag or sulcus intraocular lens implantation.14 16–18
The presence of posterior lenticonus associated with Down syndrome could be purely coincidental. However, this case highlights the importance of detection of ocular associations in a syndromic child and its timely management for better visual prognosis. This can reduce the undue stress faced by these children and ease up the burden of their caretakers.
Learning points
-
Posterior lenticonus can be diagnosed clinically with the slit-lamp microscope showing conical protrusion of posterior lens capsule and oil droplet reflex on retinoscopy.
-
Surgical correction should be considered in all patients of posterior lenticonus affecting the visual axis.
-
Visual outcomes in posterior lenticonus are good after surgical intervention and refractive rehabilitation and anti-amblyopia management.
-
An ocular examination should be performed routinely in all syndromic children by paediatricians or ophthalmologists.
-
Down syndrome can rarely present with bilateral posterior lenticonus and hence surgery should be performed with caution in cases of total cataract.
Ethics statements
Patient consent for publication
Footnotes
-
Contributors MJ diagnosed the condition and counselled caretakers for surgical intervention. The patient was operated under the care of SS. KAR was involved in collection of images and videos with valid consent. MJ and KA were involved in drafting the manuscript of the case report. MJ, SS and PV revised the manuscript and maintained the standards of the manuscript as per BMJ protocols. The final manuscript was approved by all the four authors, that is, MJ, KA, SS and PV. All authors are responsible for the integrity and accuracy of the data provided.
-
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
-
Competing interests None declared.
-
Provenance and peer review Not commissioned; externally peer reviewed.
- © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
References
Use of this content is subject to our disclaimer