We report a case of a 12-year-old male with hematological, ocular, dermatological, dental and gastrointestinal involvement.
To the best of our knowledge and after an extensive internet search, this probably is the first case of subluxation of the natural
crystalline lens (NCL) with so many systemic associations described plus the pattern of subluxation itself.
A 12-year-old male (Figure 1) receiving treatment for
gastroenteritis from the department of pediatrics (at our institute)
presented to us with a history of itching bilateral eyes since his
admission to the hospital. Secondly, the department of pediatrics
diagnosed the child to be suffering from aplastic anemia and was
referring him to a higher center for further management. On the
contrary, old records bought by the patient’s father and mother
showed that the patient was diagnosed as a case of thalassemia
from some other institute and was receiving treatment in the form
of regular blood transfusion from that institute. Further, the patient
had multiple attacks of diarrhoea in the past few years for which
he was admitted in hospital many times. The diarrhoea was not
related to any particular meal. He was also receiving treatment from
dental department for grade 3 mobility of lower anterior teeth. The
positive findings on his general physical and systemic examination
were thin sparse hairs on the scalp (Figure 2), facial freckles (Figure
3), and barrel shaped chest (Figure 4). His blood sugar, renal
function tests, liver function tests, X ray chest, electrocardiography,
vitamin B12 plus folate and zinc levels, C reactive proteins and
serum electrolytes which were already carried out were within
normal limits. The patient’s parents were farmers by occupation
and did not give a history of themselves suffering from any major
illness in the past. The patient’s family history revealed that one
of the siblings had died at a younger age because of some illness,
though no detail or hospital records of the disease were available
with the parents. There was no other significant medical, surgical,
traumatic or drug usage history.
Figure 2: Thin sparse hairs on the scalp.
Figure 3: Facial freckles.
Figure 4: Barrel shaped chest.
Figure 5: Inferonasal subluxation of the NCL.
Figure 6: Anterior subluxation of the NCL .
Ocular examination was carried out. His visual acquity was
finger counting at 2 meters bilaterally with no improvement
on pinhole and refraction. Slit lamp examination of the right
eye (Figure 5) revealed inferonasal subluxation of the NCL with
a shallow anterior chamber while the left eye (Figure 6) had
subluxation of the NCL into the anterior chamber with a shallow
anterior chamber. The intraocular pressure and axial lengths of
both the eyes were within normal limits. The patient did allow us to
do gonioscopy. Bilateral fundus could not be seen because of media
haze, though the NCL bilaterally were not cataractous nor was there
any intraocular inflammation. Bilaterally, the ocular movements
and pupillary reaction were normal. The itching in his eyes was
as a result of allergic conjunctivitis for which we prescribed him
antihistaminic eye drops. Clinical features and investigations for
diagnosis of homocysteinuria, marfans syndrome and ehler danlos
syndrome did not reveal any abnormality. Facility for ultrasound
biomicroscopy (UBM), Optical coherence tomography (OCT), B
scan ultrasonography and genetic studies were not available at our
institute. We could have planned for his NCL removal and a probable
intraocular lens implantation under guarded visual prognosis, but
the patient wanted all his treatment modalities to be done in single
institution, and his referral center had all the facilities.
Ectopia lentis is displacement of the lens from its normal
position. Ocular causes of lens subluxation include trauma, high
myopia, buphthalmos, anterior uveal tumors, pseudoexfoliation
syndrome, and hypermature cataracts [1]. Systemic disorders
associated with ectopia lentis include Marfan syndrome,
homocystinuria, Weill-Marchesani syndrome, and Ehlers-Danlos
syndrome [2].
Spontaneous dislocation of the NCL is an extremely rare entity,
especially its dislocation to the anterior chamber. This dislocation
to the anterior chamber can lead to various complications like
corneal edema, pupillary block glaucoma and anterior uveitis
which requires urgent removal of the NCL [3]. Surgical procedures
such as intracapsular cataract extraction, limbal or pars plana
lensectomy and anterior vitrectomy and suturing of the haptics to
the sclera have been the surgical modalities in use. Femtosecond
laser assisted cataract surgery, glued intraocular lenses, instead of
conventional scleral fixation of IOLs with sutures for fixation are
another useful advancement in treatment [4].
The presence of ectopia lentis with multisystem involvement in
our patient could be a part of a syndrome complex or may be an
isolated entity it still remains a mystery for us. Ectopia lentis with
hematological involvement has probably not been reported before
(to the best of our knowledge).