A Tale of Two Ectopics: Two Cases Depicting the End Spectra of Ectopia Lentis

Introduction

Ectopialentis is defined as displacement or mal position of the crystalline lens of the eye. It was first described by Berryat in 1749 while the term was coined by Stellwag in 1856. Though trauma remains the most common cause of ectopia lentis, a multitude of congenital anomalies are associated with it [1]. The congenital diseases can have ectopia lentis as the presenting feature, enabling their early identification and management during routine screening ophthalmic examination of children. While most of these syndromes like Marfan’s syndrome have grave systemic abnormalities, some can have ectopia lentis as the sole feature. This makes the early and precise diagnosis of these entities essential so as to treat the systemic abnormalities and prolong longevity on one hand and provide visual rehabilitation to reduce morbidity and enhance holistic growth of the child on the other hand [2] (Table 1).

diagnosed as a case of Marfan’s syndrome. Systemic evaluation revealed aortic root dilatation, mitral valve prolapse and arachnodactyly with positive wrist (Walker) and thumb (Steinberg) signs. Increased corneal diameters and bilateral supero-temporally displaced pupils with infero-nasally displaced lens were detected with normal systemic features and serology in the second patient who was subsequently diagnosed as a case of ectopial entis et pupillae (ELeP).

Case Reports

A twelve year old female with history of bilateral gradual painless diminution of vision and a nine year old female with similar complaints underwent a thorough systemic, ophthalmic and serological examination. Temporally displaced lens with normally placed pupil was observed in the first patient who was subsequently

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Figure 5: Infero-temporally displaced lens OS. The first case (Marfan’s syndrome) was started on tablet Ramipril 25mg OD, tablet Revolol 50mg OD with extensive physiotherapy and joint stretching exercises. She was advised regular follow-up for cardiac monitoring. The second case (Ectopia lentis et pupillae) was devoid of any systemic involvement and required only visual rehabilitation. Visual rehabilitation by means of spectacle correction was resorted to with good acceptance by the patient in both cases. On follow-up visits, parents reported substantial academic improvement and satisfaction on part of the child.

Discussion

Marfan’s syndrome is the most common cause of ectopia lentis while ectopia lentis et pupillae is amongst the rarest. These two cases encompass the entire gamut of dysmorphic syndromes with ectopia lentis as the diagnostic aid in both. Studies by Matsuo et al. and Shafique, et al. have advocated childhood ophthalmic screening for early detection and rehabilitation of these RASopathies with lens involvement. In our study, initial diagnosis of both these conditions was made incidentally during ophthalmological examination, leading to visual comfort in both the patients and detection and management of lethal cardiovascular abnormalities in the case with Marfan’s syndrome [3, 4].

Conclusion

While the patient with ELeP had no systemic abnormalities and its management required only spectacle correction, Marfan’s syndrome patient had grave systemic abnormalities requiring a multi-speciality approach to its management. This paper highlights the two extremes of dimorphic syndrome having ectopia lentis at presentation, with ELeP at one end of spectrum without any systemic involvement and Marfan’s syndrome at the grave end of the spectrum with plethora of dire systemic abnormalities.